Cutis Laxa, Autosomal Recessive, Type Iic (ARCL2C)

Alias:

Autosomal Recessive Cutis Laxa Type 2c

Arcl2c

Cutis Laxa Autosomal Recessive, Type Iic

Autosomal Recessive Cutis Laxa Type Iic

Cutis Laxa, Autosomal Recessive, 2c

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Iic, is also known as autosomal recessive cutis laxa type 2c. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iic is ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1). Affiliated tissues include skin and heart, and related phenotypes are blepharophimosis and cutis laxa

Related ID：

MALACARDS：CTS044

OMIM：617402

MESH：D003483