Literature DB >> 12558853

What syndrome is this? Neu-Laxova syndrome.

K Robin Carder1, James E Fitzpatrick, William L Weston.   

Abstract

Entities:  

Mesh：

Year:  2003        PMID： 12558853     DOI： 10.1046/j.1525-1470.2003.03017.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


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  4 in total

1.  Prenatal diagnosis and postmortem findings of Neu-laxova syndrome.

Authors:  Ebru Tarim; Filiz Bolat
Journal:  J Turk Ger Gynecol Assoc       Date:  2010-12-01

2.  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

3.  On the phenotypic spectrum of serine biosynthesis defects.

Authors:  Ayman W El-Hattab; Ranad Shaheen; Jozef Hertecant; Hassan I Galadari; Badi S Albaqawi; Amira Nabil; Fowzan S Alkuraya
Journal:  J Inherit Metab Dis       Date:  2016-03-10       Impact factor: 4.982

4.  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
  4 in total

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