人类畸形综合征研究二十四 B：杜波维茨综合征。进一步观察。 - Suppr

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Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations.

作者信息

Opitz J M, Pfeiffer R A, Hermann J P, Kushnick T

出版信息

Z Kinderheilkd. 1973 Dec 12;116(1):1-12. doi: 10.1007/BF00438824.

DOI:10.1007/BF00438824

PMID:4771703

Abstract

摘要

相似文献

Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations.

Z Kinderheilkd. 1973 Dec 12;116(1):1-12. doi: 10.1007/BF00438824.

The Dubowitz syndrome.

Z Kinderheilkd. 1971;110(3):175-87. doi: 10.1007/BF00440382.

A rare type of low birthweight dwarfism: the Dubowitz syndrome.

Z Kinderheilkd. 1975 Nov 13;120(4):283-92. doi: 10.1007/BF00440267.

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[Heterogeneity of Seckel syndrome? Apropos of a case].

Ann Pediatr (Paris). 1983 Nov;30(9):700-4.

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Eur J Pediatr. 2014 Sep;173(9):1253-6. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29.

[Seckel syndrome (the bird-headed dwarf)].

Z Arztl Fortbild (Jena). 1986;80(19):821-2.

New syndromes of mental retardation.

Birth Defects Orig Artic Ser. 1975;11(2):264-8.

Ichthyosiform eruption in a patient with Dubowitz syndrome.

Pediatr Dermatol. 1995 Jun;12(2):130-3. doi: 10.1111/j.1525-1470.1995.tb00138.x.

Dubowitz syndrome: a cholesterol metabolism disorder?

Genet Couns. 2008;19(3):287-90.

引用本文的文献

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

J Allergy Clin Immunol. 2023 Aug;152(2):500-516. doi: 10.1016/j.jaci.2023.03.022. Epub 2023 Mar 31.

Oligodontia and Facial Phenotype Associated with a Rare Syndrome.

Case Rep Dent. 2022 Dec 26;2022:1045327. doi: 10.1155/2022/1045327. eCollection 2022.

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

Mol Genet Genomic Med. 2021 May;9(5):e1644. doi: 10.1002/mgg3.1644. Epub 2021 Mar 31.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24.

The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.

J Immunol. 2016 Jan 1;196(1):244-55. doi: 10.4049/jimmunol.1403099. Epub 2015 Nov 25.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Eur J Pediatr. 2014 Sep;173(9):1253-6. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

Identification of the DNA repair defects in a case of Dubowitz syndrome.

PLoS One. 2013;8(1):e54389. doi: 10.1371/journal.pone.0054389. Epub 2013 Jan 25.

Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.

J Clin Med Res. 2011 Jul 26;3(4):147-55. doi: 10.4021/jocmr581w.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

J Med Case Rep. 2011 Jan 27;5:38. doi: 10.1186/1752-1947-5-38.

本文引用的文献

The Dubowitz syndrome.

Z Kinderheilkd. 1971;110(3):175-87. doi: 10.1007/BF00440382.

Pattern of malformation in offspring of chronic alcoholic mothers.

Lancet. 1973 Jun 9;1(7815):1267-71. doi: 10.1016/s0140-6736(73)91291-9.

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相似文献

Studies of malformation syndromes of man XXIV B: the Dubowitz syndrome. Further observations.

Z Kinderheilkd. 1973 Dec 12;116(1):1-12. doi: 10.1007/BF00438824.

The Dubowitz syndrome.

Z Kinderheilkd. 1971;110(3):175-87. doi: 10.1007/BF00440382.

A rare type of low birthweight dwarfism: the Dubowitz syndrome.

Z Kinderheilkd. 1975 Nov 13;120(4):283-92. doi: 10.1007/BF00440267.

Ocular manifestations of Seckel syndrome.

Am J Ophthalmol. 2001 Oct;132(4):596-7. doi: 10.1016/s0002-9394(01)01046-7.

[Heterogeneity of Seckel syndrome? Apropos of a case].

Ann Pediatr (Paris). 1983 Nov;30(9):700-4.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Eur J Pediatr. 2014 Sep;173(9):1253-6. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29.

[Seckel syndrome (the bird-headed dwarf)].

Z Arztl Fortbild (Jena). 1986;80(19):821-2.

New syndromes of mental retardation.

Birth Defects Orig Artic Ser. 1975;11(2):264-8.

Ichthyosiform eruption in a patient with Dubowitz syndrome.

Pediatr Dermatol. 1995 Jun;12(2):130-3. doi: 10.1111/j.1525-1470.1995.tb00138.x.

Dubowitz syndrome: a cholesterol metabolism disorder?

Genet Couns. 2008;19(3):287-90.

引用本文的文献

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

J Allergy Clin Immunol. 2023 Aug;152(2):500-516. doi: 10.1016/j.jaci.2023.03.022. Epub 2023 Mar 31.

Oligodontia and Facial Phenotype Associated with a Rare Syndrome.

Case Rep Dent. 2022 Dec 26;2022:1045327. doi: 10.1155/2022/1045327. eCollection 2022.

Endocrinological features of a patient with 14q microdeletion and Dubowitz phenotype.

Mol Genet Genomic Med. 2021 May;9(5):e1644. doi: 10.1002/mgg3.1644. Epub 2021 Mar 31.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24.

The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.

J Immunol. 2016 Jan 1;196(1):244-55. doi: 10.4049/jimmunol.1403099. Epub 2015 Nov 25.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Eur J Pediatr. 2014 Sep;173(9):1253-6. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

Identification of the DNA repair defects in a case of Dubowitz syndrome.

PLoS One. 2013;8(1):e54389. doi: 10.1371/journal.pone.0054389. Epub 2013 Jan 25.

Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.

J Clin Med Res. 2011 Jul 26;3(4):147-55. doi: 10.4021/jocmr581w.

Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

J Med Case Rep. 2011 Jan 27;5:38. doi: 10.1186/1752-1947-5-38.

本文引用的文献

The Dubowitz syndrome.

Z Kinderheilkd. 1971;110(3):175-87. doi: 10.1007/BF00440382.

Pattern of malformation in offspring of chronic alcoholic mothers.

Lancet. 1973 Jun 9;1(7815):1267-71. doi: 10.1016/s0140-6736(73)91291-9.