Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child.
about
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.Chorioretinopathy and microcephaly with normal development.Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.
P2860
Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Congenital microcephaly, juven ...... in a mildly dysmorphic child.
@en
type
label
Congenital microcephaly, juven ...... in a mildly dysmorphic child.
@en
prefLabel
Congenital microcephaly, juven ...... in a mildly dysmorphic child.
@en
P2093
P1476
Congenital microcephaly, juven ...... in a mildly dysmorphic child.
@en
P2093
Magda Barsoum-Homsy
Olga Dembinska
Robert K Koenekoop
Tuong-Nam Nguyen
Vazken M Der Kaloustian
P304
P356
10.1016/S0008-4182(05)80034-1
P577
2005-04-01T00:00:00Z