Elsahy-Waters Syndrome (ESWS)

Elsahy-Waters Syndrome(来自ICD-11)

别称:

Bsg Syndrome

Branchioskeletogenital Syndrome

Brachioskeletogenital Syndrome

Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss

Esws

Branchio-Skeleto-Genital Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Elsahy-Waters Syndrome, also known as bsg syndrome, is related to hypertelorism and hemifacial hyperplasia. An important gene associated with Elsahy-Waters Syndrome is CDH11 (Cadherin 11), and among its related pathways/superpathways are Presenilin-Mediated Signaling and S-1P Stimulated Signaling. Affiliated tissues include skin and brain, and related phenotypes are short neck and depressed nasal bridge

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