Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
about
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypesGenetics of anterior segment dysgenesis disorders.An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.Mutations of the CYP1B1 gene in congenital anterior staphylomasPeters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report.
P2860
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh
2010年學術文章
@zh-hant
name
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@en
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@nl
type
label
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@en
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@nl
prefLabel
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@en
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@nl
P2093
P1433
P1476
Severe Peters Plus syndrome-li ...... e: proposal of a new syndrome.
@en
P2093
Hirofumi Ohashi
Jiro Nishimura
Kenji Hoshino
Kiyoshi Ogawa
Makiko Osawa
Norimasa Mitsui
Reiko Shimizu
Ryota Saito
Takashi Negishi
P304
P356
10.1111/J.1741-4520.2010.00282.X
P577
2010-06-24T00:00:00Z