Cutis Laxa, Autosomal Recessive, Type Iie (ARCL2E)

Alias:

Arcl2e

Cutis Laxa with Joint Laxity and Developmental Delay

Cutis Laxa, Autosomal Recessive, Type 2e

Autosomal Recessive Cutis Laxa Type 2

Cutis Laxa, Autosomal Recessive, 2e

Arcl2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Iie, also known as arcl2e, is related to cutis laxa, autosomal recessive, type iib and cutis laxa, autosomal recessive, type iia. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iie is LTBP1 (Latent Transforming Growth Factor Beta Binding Protein 1). Affiliated tissues include skin and bone, and related phenotypes are wide nasal bridge and short stature

Related ID：

MALACARDS：CTS048

OMIM：619451

MESH：D003483