An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
about
Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human DiseaseMutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationDeficiency of the chromatin regulator BRPF1 causes abnormal brain development.The lysine acetyltransferase activator Brpf1 governs dentate gyrus development through neural stem cells and progenitors.The chromatin regulator Brpf1 regulates embryo development and cell proliferationThe Chromatin Regulator BRPF3 Preferentially Activates the HBO1 Acetyltransferase but Is Dispensable for Mouse Development and Survival.Further delineation of the KAT6B molecular and phenotypic spectrumHcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expressionThe necessity for in vivo functional analysis in human medical genetics.BRPF1 is essential for development of fetal hematopoietic stem cellsMutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated PtosisDe novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.
P2860
Q28079704-F5480DD9-6FF2-4674-8295-F9EAFEFD71EFQ29144895-4CE988F8-C2F9-4A09-AC19-AAEF15E46987Q34457162-33A04041-0DCF-4ED1-AF69-2C49DD9CE7A2Q34466505-9D87C0EA-B1B2-4EF9-BA4F-C04A3FA5F3D2Q34467243-A7E30B2C-8124-4D9D-A09F-9BC208717AABQ34505489-A0FCB783-0FA5-49D3-A7E1-453924481EEFQ35154294-D3287064-9D88-4645-B1B4-F1DA117808BCQ35341241-A5BD9F3F-2914-4F46-AC21-716B5D4BAE5FQ36683908-FA043F37-40E8-4DF3-BF4B-C08C78A92F4EQ37217478-0B60282B-2AB8-43B1-A607-8DB6C7680513Q41086254-A9A197E3-BD92-45A2-9A7E-A42B89E0C1EAQ42328294-8263DF45-588E-423E-ACA6-A164B1F55F82
P2860
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
An individual with blepharophi ...... iated with mutations in KAT6B.
@en
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome
@nl
type
label
An individual with blepharophi ...... iated with mutations in KAT6B.
@en
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome
@nl
prefLabel
An individual with blepharophi ...... iated with mutations in KAT6B.
@en
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome
@nl
P2093
P2860
P356
P1476
An individual with blepharophi ...... iated with mutations in KAT6B.
@en
P2093
Elaine H Zackai
Elizabeth A Geiger
Livija Medne
Tamim H Shaikh
P2860
P304
P356
10.1002/AJMG.A.36379
P407
P50
P577
2014-01-23T00:00:00Z