Confirmation of autosomal recessive inheritance ofCOL2A1mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling-Reference-Cited by-同舟云学术

Confirmation of autosomal recessive inheritance ofCOL2A1mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling

Published:2015-09-11 Issue:1 Volume:170 Page:263-265
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barat-Houari Mouna¹²,Baujat Geneviève³,Tran Mau Them Frédéric⁴,Fabre Aurélie¹,Geneviève David²⁴⁵,Touitou Isabelle¹²⁵

Affiliation:

1. Laboratoire de génétique des maladies rares et auto-inflammatoires; CHRU; Montpellier France

2. Génétique des Maladies Auto-inflammatoires et des Ostéo-arthropathies chroniques; INSERM U1183; Montpellier France

3. Département de Génétique et INSERM U781; Université Paris Descartes-Sorbonne Paris Cité; Fondation Imagine; Hôpital Necker-Enfants malades; AP-HP; Paris France

4. Département de Génétique Médicale; Centre de référence des anomalies du développement; Centre de compétence des Maladies Osseuses Constitutionnelles; CHRU; Montpellier France

5. Université de Montpellier; Montpellier France

Funder

CHRU de Montpellier

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference7 articles.

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2. A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies;Chung;Am J Med Genet A,2013

3. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family;Mark;Am J Med Genet A,2011

4. The phenotypic spectrum of COL2A1 mutations;Nishimura;Hum Mutat,2005

5. Prediction of collagen stability from amino acid sequence;Persikov;J Biol Chem,2005

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3. Radiologic Features of Type II and Type XI Collagenopathies;RadioGraphics;2021-01

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