Barber-Say Syndrome (BBRSAY)

Barber-Say Syndrome(来自ICD-11)
别称:
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia
Barber Say Syndrome
Bbrsay
Bss
Hypertrichosis Atrophic Skin Ectropion Macrostomia
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Barber-Say Syndrome, also known as hypertrichosis-atrophic skin-ectropion-macrostomia syndrome, is related to bernard-soulier syndrome and brooke-spiegler syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and hearing impairment
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基础信息

遗传方式
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患病率/发病率
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参考文献
MALACARDS
AR
AD
Newborn
<1/1000000
9
30
16

疾病表征

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靶点药物

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疾病模型

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MGI
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