Literature DB >> 3055985

Cerebral abnormalities in the Neu-Laxova syndrome.

T I Ostrovskaya1, G I Lazjuk.   

Abstract

Cerebral abnormalities are considered an obligatory manifestation of the Neu-Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of the cerebellum, and other pathological changes. We present data on 3 cases with central nervous system anomalies, two of which have not been described previously, and summarize the literature on the subject. The problem of distinguishing type III lissencephaly is discussed.

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Year:  1988        PMID: 3055985     DOI: 10.1002/ajmg.1320300308

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


  6 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

Review 2.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       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

Review 4.  Development and malformations of the human pyramidal tract.

Authors:  H J ten Donkelaar; M Lammens; P Wesseling; A Hori; A Keyser; J Rotteveel
Journal:  J Neurol       Date:  2004-12       Impact factor: 4.849

5.  Antley-Bixler syndrome: description of two patients.

Authors:  E Bianchi; S Cordini; P Fiori; F Torcetta; G Beluffi
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

6.  Frequency and severity of ketoacidosis at diagnosis among childhood type 1 diabetes in Khartoum state, Sudan.

Authors:  Ahmed M Ahmed; Omar F Khabour; Samia M Ahmed; Ibrahim A Alebaid; Amna M Ibrahim
Journal:  Afr Health Sci       Date:  2020-06       Impact factor: 0.927

  6 in total

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