Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment

Kabuki syndrome (KS) is a multiple congenital malformation syndrome which has been described across all ethnic groups. Most KS patients possess two genetic subtypes: KMT2D‐associated, autosomal‐dominant KS type 1 (KS1; OMIM 147920); and KDM6A‐associated, X‐linked‐dominant KS type 2. Generalized join...

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Bibliographic Details
Published in:Am J Med Genet A
Main Authors: Schott, Dina A., Stumpel, Constance T. R. M., Klaassens, Merel
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2018
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Original Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6590336/
https://ncbi.nlm.nih.gov/pubmed/30556359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.60696
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