Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia-Reference-Cited by-同舟云学术

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

Published:2012-07-17 Issue:9 Volume:158A Page:2245-2249
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Garavelli Livia,Gargano Giancarlo,Simonte Graziella,Rosato Simonetta,Wischmeijer Anita,Melli Nives,Braibanti Silvia,Gelmini Chiara,Forzano Francesca,Pietrobono Roberta,Pomponi Maria Grazia,Andreucci Elena,Toutain Annick,Superti-Furga Andrea,Neri Giovanni

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35474/fullpdf

Reference32 articles.

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3. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome;Budny;Hum Genet,2006

4. Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia;Campos-Xavier;Am J Hum Genet,2009

5. Simpson-Golabi-Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case;Chen;Am J Med Genet,1993

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