Article ; Online: A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
2019 Volume 29, Issue 1, Page(s) 42–45
MeSH term(s) | Blepharophimosis/genetics ; Blepharophimosis/pathology ; Congenital Hypothyroidism/genetics ; Congenital Hypothyroidism/pathology ; Facies ; Frameshift Mutation ; Heart Defects, Congenital/genetics ; Heart Defects, Congenital/pathology ; Histone Acetyltransferases/genetics ; Humans ; Infant, Newborn ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Joint Instability/genetics ; Joint Instability/pathology ; Male ; Whole Exome Sequencing |
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Chemical Substances | Histone Acetyltransferases (EC 2.3.1.48) ; KAT6B protein, human (EC 2.3.1.48) |
Language | English |
Publishing date | 2019-04-01 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ZDB-ID | 1121482-x |
ISSN | 1473-5717 ; 0962-8827 |
ISSN (online) | 1473-5717 |
ISSN | 0962-8827 |
DOI | 10.1097/MCD.0000000000000270 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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