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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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| Pubblicato in: | Am J Med Genet A |
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| Autori principali: | , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2018
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| Soggetti: | |
| Accesso online: | 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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