Рецесивне захворювання, повязане з KLHL7

Визначення(English summary)

A group of multiple congenital anomalies syndromes associated to KLHL7 biallelic variants, ranging from a phenotype partially overlapping the Bohring-Opitz syndrome (BOS) to a phenotype overlapping the Crisponi/Cold-Induced Sweating syndrome (CS/CISS), with some patients presenting features of both conditions.