Sindrom Waardenburg. Rubinstein–Taybi syndrome (RTS) is a rare genetic condition characterized by short stature moderate to severe learning difficulties distinctive facial features and broad thumbs and first toes Other features of the disorder vary among affected individuals These characteristics are caused by a mutation or deletion in the CREBBP and/or EP300 gene located on chromosome 16.
Aromatase excess syndrome (AES or AEXS) is a rare genetic and endocrine syndrome which is characterized by an overexpression of aromatase the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens in turn resulting in excessive levels of circulating estrogens and accordingly symptoms of hyperestrogenismIt affects both sexes manifesting.
Rubinstein–Taybi syndrome Wikipedia
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Waardenburg Syndrome Type 1 Wikipedia
Aromatase excess syndrome Wikipedia
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