Literature DB >> 3970062

Elaboration of the phenotypic changes of the upper limbs in the Neu-Laxova syndrome.

I A Shved, G I Lazjuk, E D Cherstvoy.   

Abstract

We present two new cases and data from a detailed study of the upper limbs (structural changes, the state of peripheral nerves, arteries, muscles and bones) of three stillborn infants with the Neu-Laxova syndrome. The morphogenesis of many of the examined anatomical structures in these fetuses was anomalous. The origin of these anomalies is discussed.

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Year:  1985        PMID： 3970062     DOI： 10.1002/ajmg.1320200102

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


  4 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.  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

Review 3.  Prenatal Diagnosis of Neu-Laxova Syndrome.

Authors:  Adriana Serrano Olave; Alba Padín López; María Martín Cruz; Susana Monís Rodríguez; Isidoro Narbona Arias; Jesús S Jiménez López
Journal:  Diagnostics (Basel)       Date:  2022-06-23

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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