Clinical refinement of the SETD5‐associated phenotype in a child displaying novel features and KBG syndrome‐like appearance

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-05, Vol.188 (5), p.1623-1625
Main Authors: Pascolini, Giulia, Gnazzo, Maria, Novelli, Antonio, Grammatico, Paola
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Bone Diseases, Developmental - genetics
Facies
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Methyltransferases - genetics
Phenotype
Phenotypes
Tooth Abnormalities - genetics
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62679