Literature DB >> 6660255

Neu-Laxova syndrome: two further case reports and comments on proposed subclassification.

R F Mueller, R M Winter, C P Naylor.   

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Year:  1983        PMID： 6660255     DOI： 10.1002/ajmg.1320160424

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


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  2 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.  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
  2 in total

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