Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal
macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. Using an exome …

Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features,
osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we …

Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct
facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has …

Cantú syndrome (CS), characterized by hypertrichosis, distinctive facial features, and
complex cardiovascular abnormalities, is caused by pathogenic variants in ABCC9 and …

Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9
and KCNJ8, which encode the regulatory and pore forming subunits of ATP‐sensitive …

Cantu syndrome is an autosomal dominant overgrowth syndrome associated with facial
dysmorphism, congenital hypertrichosis, and cardiomegaly. Some affected individuals show …

Abstract KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive
inwardly rectifying potassium (K ATP) channels. KCNJ8 sequence variations are traditionally …

ABSTRACT ATP‐sensitive potassium (KATP) channels, composed of inward‐rectifying
potassium channel subunits (Kir6. 1 and Kir6. 2, encoded by KCNJ 8 and KCNJ1 1 …

Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial
anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cantú …

The complex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either
KCNJ8 or ABCC9, the genes encoding the Kir6. 1 and SUR2 subunits of ATP-sensitive …