Literature DB >> 4671862

A further example of a lethal autosomal recessive condition in sibs.

R Laxova, P T Ohara, J A Timothy.   

Abstract

Mesh：

Year:  1972        PMID： 4671862     DOI： 10.1111/j.1365-2788.1972.tb01585.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


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  8 in total

1.  Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

Authors:  Rocio Acuna-Hidalgo; Denny Schanze; Ariana Kariminejad; Ann Nordgren; Mohamad Hasan Kariminejad; Peter Conner; Giedre Grigelioniene; Daniel Nilsson; Magnus Nordenskjöld; Anna Wedell; Christoph Freyer; Anna Wredenberg; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Hülya Kayserili; Nursel Elcioglu; Siavash Ghaderi-Sohi; Payman Goodarzi; Hamidreza Setayesh; Maartje van de Vorst; Marloes Steehouwer; Rolph Pfundt; Birgit Krabichler; Cynthia Curry; Malcolm G MacKenzie; Kym M Boycott; Christian Gilissen; Andreas R Janecke; Alexander Hoischen; Martin Zenker
Journal:  Am J Hum Genet       Date:  2014-08-21       Impact factor: 11.025

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.  Additional manifestations of the Neu-Laxova syndrome.

Authors:  S B Turkel; A J Ebbin; J W Towner
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

4.  Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.

Authors:  R M Winter; D Donnai; M D Crawfurd
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318

5.  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 6.  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

7.  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

8.  A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.

Authors:  Behzad Barekatain; Alireza Sadeghnia; Elham Rouhani; Ghazaleh Jamalipoor Soofi
Journal:  Adv Biomed Res       Date:  2018-04-24
  8 in total

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