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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromeThe KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsDe novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.Genetic syndromes caused by mutations in epigenetic genes.Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation.
P2860
description
2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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name
Genitopatellar syndrome: a recognizable phenotype.
@en
Genitopatellar syndrome: a recognizable phenotype.
@nl
type
label
Genitopatellar syndrome: a recognizable phenotype.
@en
Genitopatellar syndrome: a recognizable phenotype.
@nl
prefLabel
Genitopatellar syndrome: a recognizable phenotype.
@en
Genitopatellar syndrome: a recognizable phenotype.
@nl
P2860
P356
P1476
Genitopatellar syndrome: a recognizable phenotype.
@en
P2093
William Reardon
P2860
P304
P356
10.1002/AJMG.10590
P577
2002-08-01T00:00:00Z