Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations
about
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.Primary cilia in neurodevelopmental disorders.Pallister-Hall syndrome has gone the way of modern medical genetics.Cell signaling pathways in the adrenal cortex: Links to stem/progenitor biology and neoplasia.GLI3-related polydactyly: a review.Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.Expression Profile of Sonic Hedgehog Pathway Members in the Developing Human Fetal Brain.A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient.GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.
P2860
Q30703120-93C6C3E5-44B9-4EDF-990B-D50437F9B297Q38168054-65E9C955-48F1-495B-9239-EACE415CCF6CQ38271423-7E90E00E-0C6F-470A-A60B-C5CF37EC8EEAQ39035325-B51059E2-3F8B-4FBC-867B-A2E05379488DQ39146281-820C84C5-3E7C-48AD-8EAF-32E25E213EF7Q40362439-1EA8B80F-4EFF-441F-AC5B-F3EA0C56EEABQ42413394-3E573DE8-D5D6-40AF-87EB-76049B43FB95Q43109842-93045B26-57CB-4C69-B448-EB03446EAC09Q48113495-96946164-368B-464C-9F4A-A981DA67AA3FQ53982215-AEC56226-2084-45F3-803E-97D419C73C2FQ54204341-86447E4F-4235-42F3-9971-5DA2CA5776A8
P2860
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
@zh-hant
name
Expanded mutational spectrum o ...... enotype-phenotype correlations
@ast
Expanded mutational spectrum o ...... enotype-phenotype correlations
@en
type
label
Expanded mutational spectrum o ...... enotype-phenotype correlations
@ast
Expanded mutational spectrum o ...... enotype-phenotype correlations
@en
prefLabel
Expanded mutational spectrum o ...... enotype-phenotype correlations
@ast
Expanded mutational spectrum o ...... enotype-phenotype correlations
@en
P2093
P2860
P1476
Expanded mutational spectrum o ...... enotype-phenotype correlations
@en
P2093
Aleksander Jamsheer
Anita Geppert
Anna Latos-Bieleńska
Anna Sowińska
Małgorzata Jamsheer-Bratkowska
Tomasz Trzeciak
P2860
P2888
P304
P356
10.1007/S13353-012-0109-X
P577
2012-08-18T00:00:00Z