中肢侏儒症为骨软骨发育不良的纯合子表现型。 - Suppr

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Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

作者信息

Espiritu C, Chen H, Woolley P V

出版信息

Am J Dis Child. 1975 Mar;129(3):375-7. doi: 10.1001/archpedi.1975.02120400075020.

DOI:10.1001/archpedi.1975.02120400075020

PMID:1121969

Abstract

摘要

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Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

Am J Dis Child. 1975 Mar;129(3):375-7. doi: 10.1001/archpedi.1975.02120400075020.

[Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis (author's transl)].

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Congenital conductive hearing loss in dyschondrosteosis.

Ann Otol Rhinol Laryngol. 2003 Feb;112(2):153-8. doi: 10.1177/000348940311200208.

Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

Eur J Pediatr. 1980 Sep;134(3):269-72. doi: 10.1007/BF00441485.

引用本文的文献

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous Splice-Site Variant.

Genes (Basel). 2023 Apr 7;14(4):877. doi: 10.3390/genes14040877.

SHOX gene in Leri-Weill syndrome and in idiopathic short stature.

J Endocrinol Invest. 2001 Oct;24(9):737-41. doi: 10.1007/BF03343919.

Pseudoautosomal linkage of Hodgkin disease.

Am J Hum Genet. 1999 Nov;65(5):1413-22. doi: 10.1086/302608.

Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

Eur J Pediatr. 1980 Sep;134(3):269-72. doi: 10.1007/BF00441485.

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

Hum Genet. 1979 Jan 19;46(1):21-7. doi: 10.1007/BF00278898.

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相似文献

Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

Am J Dis Child. 1975 Mar;129(3):375-7. doi: 10.1001/archpedi.1975.02120400075020.

[Mesomelic dwarfism of the Langer type as a homozygous form of dyschondrosteosis (author's transl)].

Rofo. 1982 May;136(5):583-7. doi: 10.1055/s-2008-1056106.

Dyschondrosteosis (mesomelic dwarfism)--a family study.

Br J Radiol. 1974 Oct;47(562):634-40. doi: 10.1259/0007-1285-47-562-634.

Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type.

Radiology. 1967 Oct;89(4):654-60. doi: 10.1148/89.4.654.

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

Hum Genet. 1979 Jan 19;46(1):21-7. doi: 10.1007/BF00278898.

[Leri-Weill's dyschondrosteosis].

Rev Chil Pediatr. 1985 May-Jun;56(3):184-7.

Dyschondrosteosis. A Mexican family with two affected males.

Clin Genet. 1972;3(3):154-7. doi: 10.1111/j.1399-0004.1972.tb01452.x.

Mesomelic dysplasia: Langer type.

Australas Radiol. 1994 Feb;38(1):58-60. doi: 10.1111/j.1440-1673.1994.tb00128.x.

Congenital conductive hearing loss in dyschondrosteosis.

Ann Otol Rhinol Laryngol. 2003 Feb;112(2):153-8. doi: 10.1177/000348940311200208.

Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

Eur J Pediatr. 1980 Sep;134(3):269-72. doi: 10.1007/BF00441485.

引用本文的文献

Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous Splice-Site Variant.

Genes (Basel). 2023 Apr 7;14(4):877. doi: 10.3390/genes14040877.

SHOX gene in Leri-Weill syndrome and in idiopathic short stature.

J Endocrinol Invest. 2001 Oct;24(9):737-41. doi: 10.1007/BF03343919.

Pseudoautosomal linkage of Hodgkin disease.

Am J Hum Genet. 1999 Nov;65(5):1413-22. doi: 10.1086/302608.

Mesomelic dysplasia, type Langer--a homozygous state for dyschondrosteosis.

Eur J Pediatr. 1980 Sep;134(3):269-72. doi: 10.1007/BF00441485.

Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis.

Hum Genet. 1979 Jan 19;46(1):21-7. doi: 10.1007/BF00278898.