A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis-Reference-Cited by-同舟云学术

A new multiple malformation syndrome of Müllerian dysgenesis and conductive hearing loss with facial hypoplasia, bilateral forearm deformity, brachydactyly, spinal stenosis and scoliosis

Published:2008-06-28 Issue:1 Volume:52 Page:30-36
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Kumar D.,Masel J. P.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1997.tb02511.x/fullpdf

Reference17 articles.

1. Absent vagina and Klippel-Feil anomaly;Baird;Am J Obstet Gynecol,1974

2. Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay;Davee;Am J Med Genet,1992

3. Brief clinical report: a further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face and intrauterine growth retardation;Donnai;Am J Med Genet,1986

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Foot anomalies in Antley–Bixler syndrome: three case reports;Journal of Pediatric Orthopaedics B;2008-09

2. Congenital Spinal Stenosis: Review, Pitfalls, and Pearls of Management;Seminars in Spine Surgery;2007-09

3. REFERENCES (GAMUTS);Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias;2007

4. Bifid liver presenting with anomalous quadrate and caudate lobes and a transverse gallbladder;Morphologie;2006-09

5. Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis;The American Journal of Human Genetics;2005-05