Recesywne zaburzenie związane z KLHL7

A group of multiple congenital anomalies syndromes associated to <i>KLHL7</i> 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.