Literature DB >> 16761298

A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome).

Lin Li1, Jueyang Wei.   

Abstract

The combination of anophthalmia and pulmonary hypoplasia with abnormal lobation is an extremely rare congenital disorder. We describe a case of a female newborn with these features that fits the recently described Matthew-Wood syndrome. Copyright 2006 Wiley-Liss, Inc.

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 16761298     DOI： 10.1002/ajmg.a.31298

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  4 in total

Review 1.  Building and Regenerating the Lung Cell by Cell.

Authors:  Jeffrey A Whitsett; Tanya V Kalin; Yan Xu; Vladimir V Kalinichenko
Journal:  Physiol Rev       Date:  2019-01-01       Impact factor: 37.312

2.  Chemistry and biology of the initial steps in vision: the Friedenwald lecture.

Authors:  Krzysztof Palczewski
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-10-22       Impact factor: 4.799

3.  Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.

Authors:  B West; K E Bove; A M Slavotinek
Journal:  Am J Med Genet A       Date:  2009-03       Impact factor: 2.802

4.  Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Authors:  Christelle Golzio; Jelena Martinovic-Bouriel; Sophie Thomas; Soumaya Mougou-Zrelli; Bettina Grattagliano-Bessieres; Maryse Bonniere; Sophie Delahaye; Arnold Munnich; Ferechte Encha-Razavi; Stanislas Lyonnet; Michel Vekemans; Tania Attie-Bitach; Heather C Etchevers
Journal:  Am J Hum Genet       Date:  2007-04-11       Impact factor: 11.025
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.