Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome | Zendy

Virginia Kimonis | Zendy; Kathryn Singh | Zendy; Rocksheng Zhong | Zendy; Behram Pastakia | Zendy; John J. DiGiovanna | Zendy; Sherri J. Bale | Zendy

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Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome

Author(s) -

Virginia Kimonis,

Kathryn Singh,

Rocksheng Zhong,

Behram Pastakia,

John J. DiGiovanna,

Sherri J. Bale

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.96

Subject(s) - nevoid basal cell carcinoma syndrome , patched , macrocephaly , basal cell carcinoma , pathology , biology , falx cerebri , basal cell nevus syndrome , medicine , gene , basal cell , genetics , hedgehog signaling pathway

Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, spine and rib anomalies, and falx cerebri calcification. Current diagnostic criteria are suboptimal when applied to pediatric populations, as most common symptoms often do not begin to appear until teenage years.

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