Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH

Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality. The pathogenesis of NLS remains unclear despite extensive clinical and pathological...

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Detalhes bibliográficos
Main Authors: Shaheen, Ranad, Rahbeeni, Zuhair, Alhashem, Amal, Faqeih, Eissa, Zhao, Qi, Xiong, Yong, Almoisheer, Agaadir, Al-Qattan, Sarah M., Almadani, Halima A., Al-Onazi, Noufa, Al-Baqawi, Badi S., Saleh, Mohammad Ali, Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121479/
https://ncbi.nlm.nih.gov/pubmed/24836451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.04.015
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