(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in th
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) character...
Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorder...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KC...
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) an...
Cantù syndrome (CS) arises from mutations in ABCC9 and KCNJ8 genes that lead to gain of function (G...
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and c...
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and c...
The complex disorder Cantu syndrome (CS) arises from gainof-function mutations in either KCNJ8 or AB...
Item does not contain fulltextATP-sensitive potassium (KATP ) channels, composed of inward-rectifyin...
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a...
We ascertained a nuclear family in which three of four siblings were affected with an unclassified a...
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, c...
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a...
Item does not contain fulltextCantu syndrome is a rare disorder characterized by congenital hypertri...
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) character...
Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorder...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KC...
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) an...
Cantù syndrome (CS) arises from mutations in ABCC9 and KCNJ8 genes that lead to gain of function (G...
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and c...
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and c...
The complex disorder Cantu syndrome (CS) arises from gainof-function mutations in either KCNJ8 or AB...
Item does not contain fulltextATP-sensitive potassium (KATP ) channels, composed of inward-rectifyin...
Cantú syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a...
We ascertained a nuclear family in which three of four siblings were affected with an unclassified a...
Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, c...
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a...
Item does not contain fulltextCantu syndrome is a rare disorder characterized by congenital hypertri...
Introduction: Centronuclear myopathies (CNMs) are a subtype of congenital myopathies (CMs) character...
Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorder...
An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and c...
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