Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome-Reference-Cited by-同舟云学术

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Published:2010-10 Issue:4 Volume:87 Page:553-559
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Anastasio Natascia,Ben-Omran Tawfeg,Teebi Ahmad,Ha Kevin C.H.,Lalonde Emilie,Ali Rehab,Almureikhi Mariam,Der Kaloustian Vazken M.,Liu Junhui,Rosenblatt David S.,Majewski Jacek,Jerome-Majewska Loydie A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: Second report with further clinical delineation;Gupta;J. Med. Genet.,1995

2. Marden-Walker-like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents;van den Ende;Am. J. Med. Genet.,1992

3. Congenital contractural arachnodactyly in two double second cousins: Possible homozygosity;Bistritzer;Clin. Genet.,1993

4. Van den Ende-Gupta syndrome: Laryngeal abnormalities in two siblings;Carr;Am. J. Med. Genet. A.,2007

5. van den Ende-Gupta syndrome: Evidence for genetic heterogeneity;Leal;Am. J. Med. Genet. A.,2009

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