A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases-Reference-Cited by-同舟云学术

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Published:2010-04 Issue:4 Volume:152A Page:875-885
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Kim Ok-Hwa,Nishimura Gen,Song Hae-Ryong,Matsui Yoshito,Sakazume Satoru,Yamada Masanobu,Narumi Yoko,Alanay Yasemin,Unger Sheila,Cho Tae-Joon,Park Sung Sup,Ikegawa Shiro,Meinecke Peter,Superti-Furga Andrea

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs;Desbuquois;Arch Fr Pediatr,1966

2. Homozygosity maping of Desbuquois dysplasia locus to chromosome 17q25.3;Faivre;J Med Genet,2003

3. Desbuquois dysplasia, a reevaluation with abnormal and “normal” hands: Radiographic manifestations;Faivre;Am J Med Genet Part A,2004

4. Long-term outcome in Desbuquois dysplasia: A follow-up in four adult patients;Faivre;Am J Med Genet Part A,2004

5. Clinical and genetic heterogeneity in Desbuquois dysplasia;Faivre;Am J Med Genet Part A,2004

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