Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.
about
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disordersThe Opitz syndrome gene product, MID1, associates with microtubulesOpitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaMig12, a novel Opitz syndrome gene product partner, is expressed in the embryonic ventral midline and co-operates with Mid1 to bundle and stabilize microtubulesX-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrumDevelopmental expression of alpha4 protein phosphatase regulatory subunit in tissues affected by Opitz syndrome.The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.Arab genetic disease database (AGDDB): a population-specific clinical and mutation database.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 syndromeX-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.X-linked microtubule-associated protein, Mid1, regulates axon development.Anorectal malformation: the etiological factors.The SPRY domain of SSB-2 adopts a novel fold that presents conserved Par-4-binding residues.Radial aplasia and chromosome 22q11 deletion.A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.22q11 deletions in patients with conotruncal heart defects.DiGeorge-like syndrome in a child with a 3p12.3 deletion involving MIR4273 gene born to a mother with gestational diabetes mellitus.A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.
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P2860
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Opitz G/BBB syndrome: clinical ...... nd a review of the literature.
@en
type
label
Opitz G/BBB syndrome: clinical ...... nd a review of the literature.
@en
prefLabel
Opitz G/BBB syndrome: clinical ...... nd a review of the literature.
@en
P2093
P2860
P1476
Opitz G/BBB syndrome: clinical ...... nd a review of the literature.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1096-8628(19960329)62:3<305::AID-AJMG20>3.0.CO;2-N
P577
1996-03-01T00:00:00Z