C4303972_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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