一种伴有多毛症的独特骨软骨发育不良——一种可能的常染色体隐性遗传病的个体化特征。 - Suppr

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A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

作者信息

Cantú J M, García-Cruz D, Sánchez-Corona J, Hernández A, Nazará Z

出版信息

Hum Genet. 1982;60(1):36-41. doi: 10.1007/BF00281261.

DOI:10.1007/BF00281261

PMID:7076246

Abstract

摘要

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本文引用的文献

[Hypertrichosis languinosa universalis].

J Genet Hum. 1969 May;17(1):1-44.

Congenital hypertrichosis lanuginosa.

Arch Dermatol. 1970 Jun;101(6):669-72.

Hypertrichosis lanuginosa in a mother and son.

Clin Genet. 1976 Nov;10(5):303-6. doi: 10.1111/j.1399-0004.1976.tb00052.x.

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相似文献

A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

Hum Genet. 1982;60(1):36-41. doi: 10.1007/BF00281261.

Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia.

Am J Med Genet. 1996 Dec 2;66(1):33-8. doi: 10.1002/(SICI)1096-8628(19961202)66:1<33::AID-AJMG8>3.0.CO;2-X.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.

Am J Med Genet. 1997 Mar 17;69(2):138-51. doi: 10.1002/(sici)1096-8628(19970317)69:2<138::aid-ajmg5>3.0.co;2-l.

Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome.

Am J Med Genet. 1991 Dec 15;41(4):432-3. doi: 10.1002/ajmg.1320410409.

Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.

Birth Defects Orig Artic Ser. 1974;10(12):61-71.

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

Clin Dysmorphol. 1998 Apr;7(2):79-85. doi: 10.1097/00019605-199804000-00001.

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Am J Med Genet. 1982 Nov;13(3):325-32. doi: 10.1002/ajmg.1320130316.

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Am J Med Genet. 2000 Oct 23;94(5):421-7. doi: 10.1002/1096-8628(20001023)94:5<421::aid-ajmg15>3.0.co;2-9.

An unusual skeletal dysplasia with platyspondyly and marked digital metaphyseal involvement: a new entity?

Prog Clin Biol Res. 1982;104:111-8.

Campomelic dysplasia. Further elucidation of a distinct entity.

Am J Dis Child. 1980 Mar;134(3):285-9. doi: 10.1001/archpedi.1980.02130150039010.

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本文引用的文献

[Hypertrichosis languinosa universalis].

J Genet Hum. 1969 May;17(1):1-44.

Congenital hypertrichosis lanuginosa.

Arch Dermatol. 1970 Jun;101(6):669-72.

Hypertrichosis lanuginosa in a mother and son.

Clin Genet. 1976 Nov;10(5):303-6. doi: 10.1111/j.1399-0004.1976.tb00052.x.