Goltz syndrome - определение. Что такое Goltz syndrome
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Что (кто) такое Goltz syndrome - определение

AN AUTOSOMAL DOMINANT CONDITION THAT CAN CAUSE UNUSUAL FACIAL APPEARANCES AND A PREDISPOSITION FOR BASAL-CELL CARCINOMA
Gorlin Syndrome; Gorlin syndrome; Basal Cell Nevus Syndrome; Basal Cell Nevus syndrome; Basal cell nevus syndrome; Gorlin-goltz syndrome; Goltz-Gorlin syndrome; Gorlin-Golz syndrome; Gorlin's syndrome; Gorlin's Syndrome; Gorlin–Goltz syndrome; Naevoid basal cell carcinoma syndrome; Gorlin-Goltz syndrome; Gorlin-Golz; Osteogenic jaw cyst; Goltz–Gorlin syndrome; Gorlin disease; Nevoid basal cell carcinoma syndrome; Basal-cell nevus syndrome

Focal dermal hypoplasia         
  • The molecular Location of the PORCN gene on the X chromosome: base pairs 48,367,346 to 48,379,201
FORM OF ECTODERMAL DYSPLASIA
Goltz syndrome
Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth.
Nevoid basal-cell carcinoma syndrome         
Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer.
Boris Goltz         
SOVIET COMPOSER (1913-1942)
Draft:Boris Goltz
Boris Grigorevich Goltz (Russian: Борис Григорьевич Гольц; 16 December (OS) / 29 December 1913 – 3 March 1942), was a Soviet composer. He is remembered today mainly for his set of 24 Preludes, Op.

Википедия

Nevoid basal-cell carcinoma syndrome

Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer. About 10% of people with the condition do not develop basal-cell carcinomas (BCCs).

The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'.

First described in 1960 by Gorlin and Goltz, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000–164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. Children who inherit the defective gene from either parent will also have the disorder.