Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
about
A developmental and genetic classification for malformations of cortical development: update 2012Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism
P2860
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Sonic Hedgehog deletion and di ...... typical of holoprosencephaly.
@en
type
label
Sonic Hedgehog deletion and di ...... typical of holoprosencephaly.
@en
prefLabel
Sonic Hedgehog deletion and di ...... typical of holoprosencephaly.
@en
P2093
P50
P1476
Sonic Hedgehog deletion and di ...... s typical of holoprosencephaly
@en
P2093
Francesco Fimiani
Lucio Nitsch
Rita Genesio
Roberto Ciccone
Roberto Della Casa
Stefania Gimelli
Virginia M Ginocchio
P304
P356
10.1016/J.EJMG.2008.07.011
P577
2008-08-13T00:00:00Z