The phenotype of Floating-Harbor syndrome in 10 patients.
about
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPRubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literatureMutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndromeCandidate SNP markers of aggressiveness-related complications and comorbidities of genetic diseases are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters.When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.The defining DNA methylation signature of Floating-Harbor Syndrome.Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.Detailed neuropsychological evaluation in a patient with Floating Harbor syndrome.Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.Synaptic Disorders
P2860
Q21202849-C143D4F1-908C-465A-AC65-05DB4F3A5C0FQ30577877-097C1A4A-AA20-4A37-B817-F3CEE4F89C94Q34248701-15DCC2DF-AFE4-489D-925B-0DD86A36B63CQ36255004-EB62FC7F-C853-4DB6-8245-03968E7837AAQ38840545-9F834FC3-AF90-4886-863A-B22339B200DEQ40432995-DC225172-E973-4AE8-8D79-5D07633F2D8DQ45122849-2B31A26B-5999-45E5-92E6-A2569618AA8FQ47579952-C72F1A3A-AD86-4A95-AA20-E37CEC5CC235Q50758564-0B7C813B-5A52-4FDC-B690-03C2FF90F37CQ50971989-BA634FE2-DE34-449E-B1A2-E96A0AB257B1Q54388295-33193DB8-6319-401A-B3D9-95AC3C23BF1EQ55055533-1418989D-6F6E-4545-AE6C-7ED2B7D6D709Q57267880-4623F7D5-4009-4D34-B6C3-ECDA5796D107
P2860
The phenotype of Floating-Harbor syndrome in 10 patients.
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
The phenotype of Floating-Harbor syndrome in 10 patients.
@en
The phenotype of Floating-Harbor syndrome in 10 patients.
@nl
type
label
The phenotype of Floating-Harbor syndrome in 10 patients.
@en
The phenotype of Floating-Harbor syndrome in 10 patients.
@nl
prefLabel
The phenotype of Floating-Harbor syndrome in 10 patients.
@en
The phenotype of Floating-Harbor syndrome in 10 patients.
@nl
P2093
P50
P356
P1476
The phenotype of Floating-Harbor syndrome in 10 patients.
@en
P2093
Annette Da Costa
Jane A Hurst
Margo L Whiteford
Ruth A Newbury-Ecob
Samantha J L Knight
Susan M White
P2860
P304
P356
10.1002/AJMG.A.33294
P407
P577
2010-04-01T00:00:00Z