Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
about
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayNeuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Neu-Laxova syndrome: a case report and review of the literature.A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review.On the phenotypic spectrum of serine biosynthesis defects.Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.Rare manifestations of Neu-Laxova syndrome.Prenatal diagnosis and postmortem findings of Neu-laxova syndrome.Prenatal genetic diagnosis of Neu-Laxova syndrome.Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.Fetal akinesia deformation sequence: Expanding the phenotypic spectrumDisorders of Keratinization
P2860
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P2860
Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
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name
Neu-Laxova syndrome: detailed ...... indings and literature review.
@en
Neu-Laxova syndrome: detailed ...... indings and literature review.
@nl
type
label
Neu-Laxova syndrome: detailed ...... indings and literature review.
@en
Neu-Laxova syndrome: detailed ...... indings and literature review.
@nl
prefLabel
Neu-Laxova syndrome: detailed ...... indings and literature review.
@en
Neu-Laxova syndrome: detailed ...... indings and literature review.
@nl
P2093
P2860
P356
P1476
Neu-Laxova syndrome: detailed ...... findings and literature review
@en
P2093
Christopher E Colby
Christopher M Cunniff
Melanie A Manning
Yasser Y El-Sayed
P2860
P304
P356
10.1002/AJMG.A.20467
P407
P50
P577
2004-03-01T00:00:00Z