Branchiooculofacial Syndrome (BOFS)

Branchiooculofacial Syndrome(来自ICD-11)

别称:

Branchio-Oculo-Facial Syndrome

Bofs

Bof Syndrome

Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome

Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging

Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome

Branchial Clefts with Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct and Premature Aging

Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Branchiooculofacial Syndrome, also known as branchio-oculo-facial syndrome, is related to lacrimal duct obstruction and microphthalmia. An important gene associated with Branchiooculofacial Syndrome is TFAP2A (Transcription Factor AP-2 Alpha), and among its related pathways/superpathways are Ciliary landscape and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include thymus and skin, and related phenotypes are everted lower lip vermilion and atypical scarring of skin

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