Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
about
Syndromes of microcephaly, microphthalmia, cataracts, and joint contractures.Additional manifestations of the Neu-Laxova syndrome.Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature.A Japanese case of Neu-Laxova syndrome.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.A rare cause of polyhydramnios: Neu-Laxova syndrome.Prenatal sonographic diagnosis of Neu-Laxova syndrome.Neu-Laxova syndrome: report of two cases.Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.
P2860
Q33668571-1DECD653-3672-4AFE-9369-2064612E1B88Q33670480-02D5D03B-DAA7-46C4-B1DB-A2AA68B5BFBBQ34000892-A1594E86-9829-49A4-B2EE-F8012CD34E1FQ34734148-5703F674-E4D4-4BAA-BA9A-DF4C0C079F54Q34747076-38AF08D2-CFF0-4FE9-9E52-D3182858B9C6Q37408397-67263D90-28AE-4074-905A-630E7EC54B75Q37718245-B9763FA9-1688-4932-938F-904CB47E9DF4Q41919290-7D53B6D9-F32A-4F33-A6F6-E38C0607C1BCQ41923288-ABADEE93-58FF-4C59-84C4-554780CD1796Q41933582-55F226DC-EA05-48A8-8E42-95C2DCAFB102Q53529024-10144507-1EAC-4B89-BE64-72D4F7617581Q54945955-A38097E0-502B-4EB9-BF1F-E5CBF4E687B9
P2860
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
description
1979 nî lūn-bûn
@nan
1979 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1979 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
name
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@ast
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@en
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@nl
type
label
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@ast
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@en
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@nl
prefLabel
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@ast
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@en
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@nl
P2093
P356
P1476
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.
@en
P2093
Cherstvoy ED
Kirillova IA
Nedzved MK
Ostrowskaja TI
P304
P356
10.1002/AJMG.1320030304
P577
1979-01-01T00:00:00Z