SMC1A
Rodzice, opiekunowie, pracownicy służby zdrowia i nauczyciele często mają wątpliwości i pytania dotyczące opieki i dobrego samopoczucia osób z Zespół Cornelia de Lange (CdLS).
SMC1A is responsible for producing and maintaining the core component of the cohesin complex ring. Changes in SMC1A have been found in approximately 5% of individuals with CdLS.
Many individuals with changes in SMC1A usually display a non-classic phenotype and have fuller eyebrows, less shortening of the nasal bridge and a rounder face compared to individuals with changes in NIPBL.
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