ECP综合征，单指型缺指畸形的另一种常染色体显性病因。 - Suppr

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The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly.

作者信息

Opitz J M, Frias J L, Cohen M M

出版信息

Eur J Pediatr. 1980 May;133(3):217-20. doi: 10.1007/BF00496079.

DOI:10.1007/BF00496079

PMID:7389733

Abstract

摘要

相似文献

The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly.

Eur J Pediatr. 1980 May;133(3):217-20. doi: 10.1007/BF00496079.

[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].

Z Kinderheilkd. 1973 Oct 1;115(3):235-44.

[Familial split hand and foot, cleft lip and palate, ectodermal dysplasia syndrome].

Orv Hetil. 1984 Mar 11;125(11):633-8.

Counseling dilemmas in EEC syndrome.

Genet Couns. 2000;11(1):19-24.

Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.

Hum Genet. 1977 Nov 2;39(1):15-25. doi: 10.1007/BF00273149.

EEC syndrome: report on 20 new patients, clinical and genetic considerations.

Am J Med Genet. 1990 Sep;37(1):42-53. doi: 10.1002/ajmg.1320370112.

Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.

Eur J Pediatr. 1980 May;133(3):207-15. doi: 10.1007/BF00496078.

Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome.

Ophthalmology. 1985 Oct;92(10):1427-31. doi: 10.1016/s0161-6420(85)33847-2.

Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?

Clin Dysmorphol. 1999 Jul;8(3):193-7.

Unusual facies, cleft palate, mental retardation, and limb abnormalities in siblings--a new syndrome.

J Pediatr. 1971 Apr;78(4):686-9. doi: 10.1016/s0022-3476(71)80477-8.

引用本文的文献

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Rev Paul Pediatr. 2017 Apr-Jun;35(2):234-238. doi: 10.1590/1984-0462/;2017;35;2;00017. Epub 2017 May 15.

The p63 gene in EEC and other syndromes.

J Med Genet. 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377.

Splitting p63.

Am J Hum Genet. 2002 Jul;71(1):1-13. doi: 10.1086/341450. Epub 2002 May 30.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246.

本文引用的文献

Ectodermal dysplasia.

Br J Plast Surg. 1961 Oct;14:190-204. doi: 10.1016/s0007-1226(61)80036-2.

Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.

Eur J Pediatr. 1980 May;133(3):207-15. doi: 10.1007/BF00496078.

Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.

Am J Dis Child. 1970 Aug;120(2):160-3. doi: 10.1001/archpedi.1970.02100070104016.

Dysmorphology (teratology).

J Pediatr. 1966 Dec;69(6):1150-69. doi: 10.1016/s0022-3476(66)80311-6.

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.

Clin Genet. 1972;3(5):295-302. doi: 10.1111/j.1399-0004.1972.tb01461.x.

The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature.

Clin Genet. 1972;3(1):43-51. doi: 10.1111/j.1399-0004.1972.tb01724.x.

[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].

Z Kinderheilkd. 1973 Oct 1;115(3):235-44.

The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.

Clin Genet. 1973;4(5):369-75. doi: 10.1111/j.1399-0004.1973.tb01162.x.

The EEC syndrome. Report of six patients.

Birth Defects Orig Artic Ser. 1974;10(7):105-27.

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.

Clin Genet. 1976 Mar;9(3):347-53. doi: 10.1111/j.1399-0004.1976.tb01585.x.

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The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly.

作者信息

Opitz J M, Frias J L, Cohen M M

出版信息

Eur J Pediatr. 1980 May;133(3):217-20. doi: 10.1007/BF00496079.

DOI:10.1007/BF00496079

PMID:7389733

Abstract

摘要

相似文献

The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly.

Eur J Pediatr. 1980 May;133(3):217-20. doi: 10.1007/BF00496079.

[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].

Z Kinderheilkd. 1973 Oct 1;115(3):235-44.

[Familial split hand and foot, cleft lip and palate, ectodermal dysplasia syndrome].

Orv Hetil. 1984 Mar 11;125(11):633-8.

Counseling dilemmas in EEC syndrome.

Genet Couns. 2000;11(1):19-24.

Split hand and food deformity and the syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC). A report of five patients.

Hum Genet. 1977 Nov 2;39(1):15-25. doi: 10.1007/BF00273149.

EEC syndrome: report on 20 new patients, clinical and genetic considerations.

Am J Med Genet. 1990 Sep;37(1):42-53. doi: 10.1002/ajmg.1320370112.

Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.

Eur J Pediatr. 1980 May;133(3):207-15. doi: 10.1007/BF00496078.

Keratopathy in a family with the ectrodactyly-ectodermal dysplasia-clefting syndrome.

Ophthalmology. 1985 Oct;92(10):1427-31. doi: 10.1016/s0161-6420(85)33847-2.

Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?

Clin Dysmorphol. 1999 Jul;8(3):193-7.

Unusual facies, cleft palate, mental retardation, and limb abnormalities in siblings--a new syndrome.

J Pediatr. 1971 Apr;78(4):686-9. doi: 10.1016/s0022-3476(71)80477-8.

引用本文的文献

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Rev Paul Pediatr. 2017 Apr-Jun;35(2):234-238. doi: 10.1590/1984-0462/;2017;35;2;00017. Epub 2017 May 15.

The p63 gene in EEC and other syndromes.

J Med Genet. 2002 Jun;39(6):377-81. doi: 10.1136/jmg.39.6.377.

Splitting p63.

Am J Hum Genet. 2002 Jul;71(1):1-13. doi: 10.1086/341450. Epub 2002 May 30.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246.

本文引用的文献

Ectodermal dysplasia.

Br J Plast Surg. 1961 Oct;14:190-204. doi: 10.1016/s0007-1226(61)80036-2.

Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.

Eur J Pediatr. 1980 May;133(3):207-15. doi: 10.1007/BF00496078.

Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.

Am J Dis Child. 1970 Aug;120(2):160-3. doi: 10.1001/archpedi.1970.02100070104016.

Dysmorphology (teratology).

J Pediatr. 1966 Dec;69(6):1150-69. doi: 10.1016/s0022-3476(66)80311-6.

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern.

Clin Genet. 1972;3(5):295-302. doi: 10.1111/j.1399-0004.1972.tb01461.x.

The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature.

Clin Genet. 1972;3(1):43-51. doi: 10.1111/j.1399-0004.1972.tb01724.x.

[Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance (author's transl)].

Z Kinderheilkd. 1973 Oct 1;115(3):235-44.

The lobster claw defect with ectodermal defects, cleft lip-palate, tear duct anomaly and renal anomalies.

Clin Genet. 1973;4(5):369-75. doi: 10.1111/j.1399-0004.1973.tb01162.x.

The EEC syndrome. Report of six patients.

Birth Defects Orig Artic Ser. 1974;10(7):105-27.

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.

Clin Genet. 1976 Mar;9(3):347-53. doi: 10.1111/j.1399-0004.1976.tb01585.x.