Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
about
SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delaminationNew insights into craniofacial malformationsLanguage Impairments in ASD Resulting from a Failed Domestication of the Human BrainZebrafish models of orofacial clefts.A surgical approach to the craniofacial defects of Opitz G/BBB syndromeUpdate on 13 Syndromes Affecting Craniofacial and Dental Structures.Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.Etiologies of uterine malformations.The society for craniofacial genetics and developmental biology 38th annual meeting.Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
P2860
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P2860
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@ast
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@en
type
label
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@ast
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@en
prefLabel
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@ast
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@en
P2093
P2860
P1476
Mutations in SPECC1L, encoding ...... dominant Opitz G/BBB syndrome
@en
P2093
Ariel F Martinez
Cindy Hudson
Daniel Swarr
Elaine H Zackai
Elizabeth M McCormick
Hakon Hakonarson
Irfan Saadi
John P Johnson
Judith E Allanson
P2860
P304
P356
10.1136/JMEDGENET-2014-102677
P407
P577
2014-11-20T00:00:00Z