Literature DB >> 7258229

Comments on the Neu-Laxova syndrome and CAD complex.

C I Scott, J M Louro, K M Laurence, M Tolarová, J G Hall, S Reed, C J Curry.   

Abstract

Entities:  

Mesh：

Year:  1981        PMID： 7258229     DOI： 10.1002/ajmg.1320090211

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  3 in total

1.  Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

Authors:  Ranad Shaheen; Zuhair Rahbeeni; Amal Alhashem; Eissa Faqeih; Qi Zhao; Yong Xiong; Agaadir Almoisheer; Sarah M Al-Qattan; Halima A Almadani; Noufa Al-Onazi; Badi S Al-Baqawi; Mohammad Ali Saleh; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2014-05-15       Impact factor: 11.025

2.  Prenatal diagnosis of Neu-Laxova syndrome: a case report.

Authors:  Halil Aslan; Ahmet Gul; Ibrahim Polat; Cihan Mutaf; Mehmet Agar; Yavuz Ceylan
Journal:  BMC Pregnancy Childbirth       Date:  2002       Impact factor: 3.007

3.  A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

Authors:  Deren Ozcan; Murat Derbent; Deniz Seçkin; Yunus Emre Bikmaz; Muhteşem Ağildere; Annachiara De Sandre-Giovannoli; Nicolas Lévy; Berkan Gürakan
Journal:  Ann Dermatol       Date:  2013-11-30       Impact factor: 1.444
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.