Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
about
Identification of multiple DNA copy number alterations including frequent 8p11.22 amplification in conjunctival squamous cell carcinomaPlatelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.The ARID1B phenotype: what we have learned so far.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.PAX9 gene mutations and tooth agenesis: A review.Six3 dosage mediates the pathogenesis of holoprosencephaly.14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.
P2860
Q35505245-1C5D108E-BACD-4CEA-8533-44C1D3C6B776Q37317012-445DC727-4785-434B-85F1-C843190652F7Q37589830-11C97A84-953A-491F-BF4D-3C496B40A6BBQ38244467-2D80E507-47CF-44F5-9E83-20838742E3F7Q38702643-8DD3E5D0-3E3C-44A7-B6AB-4C6970EFF16FQ39117195-BE45D8A5-3845-4680-8687-14BB546991ACQ46460366-C0CC7C7C-8573-4A15-BC9B-64DC8C2439A7Q53107670-E657B2A5-ECDF-4D7C-9141-3D054CBA5FFC
P2860
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus.
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
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
@zh-hant
name
Further delineation of the phe ...... for a holoprosencephaly locus.
@en
Further delineation of the phe ...... for a holoprosencephaly locus.
@nl
type
label
Further delineation of the phe ...... for a holoprosencephaly locus.
@en
Further delineation of the phe ...... for a holoprosencephaly locus.
@nl
prefLabel
Further delineation of the phe ...... for a holoprosencephaly locus.
@en
Further delineation of the phe ...... for a holoprosencephaly locus.
@nl
P2093
P1476
Further delineation of the phe ...... for a holoprosencephaly locus
@en
P2093
Akemi Tomoda
Antoinet C J Gijsbers
Arie van Haeringen
Aurore Carré
Claudia A L Ruivenkamp
Emilia K Bijlsma
Gijs W E Santen
Hiroyo Mabe
Koenraad Devriendt
Maureen Holvoet
P304
P356
10.1136/JMEDGENET-2011-100721
P407
P577
2012-05-25T00:00:00Z