HIGHLIGHTS
- who: Dong-Ying Tao from the (UNIVERSITY) have published the research work: Short stature and melanocytic nevi in a girl with, in the Journal: (JOURNAL)
- what: The authors report the clinical characteristics of a short girl re-diagnosed as having ARID1B-related CSS, with multiple nevi, and her response to recombinant human growth hormone (rhGH) treatment.
SUMMARY
Coffin-Siris syndrome (CSS) (OMIM#135,900) is a rare autosomal dominant syndrome. To date, mutations in one of the ten SWI/SNF subunits, ARID1A, ARID1B, SMARCA4, SMARB1, SMARCE1, ARID2, DPF2, SMARCC2, SOX11, and . . .
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