Cutis Laxa, Autosomal Recessive, Type Ib (ARCL1B)

Cutis Laxa, Autosomal Recessive, Type Ib(来自ICD-11)

别称:

Cutis Laxa, Autosomal Recessive, Type 1b

Arcl1b

Autosomal Recessive Cutis Laxa Type Ib

Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency

Cutis Laxa Autosomal Recessive Type Ib

Cutis Laxa, Autosomal Recessive, 1b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cutis Laxa, Autosomal Recessive, Type Ib, also known as cutis laxa, autosomal recessive, type 1b, is related to cutis laxa and efemp2-related cutis laxa. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ib is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2), and among its related pathways/superpathways are Extracellular matrix organization and Elastic fibre formation. Affiliated tissues include skin and brain, and related phenotypes are depressed nasal bridge and microcephaly

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