Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa

Published:2001-11 Issue:5 Volume:117 Page:1327-1328
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Cserhalmi-Friedman Peter B.,Garzon Maria C.,Guzman Edwin,Martinez-Mir Amalia,Chung Wendy K.,Anyane-Yeboa Kwame,Christiano Angela M.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference5 articles.

1. Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene;Christiano;J Invest Dermatol,1996

2. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa;Christiano;Hum Mutat,1997

3. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa;Christiano;Exp Dermatol,1996

4. Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa;Fine;J Am Acad Dermatol,2000

5. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa;Kivirikko;Hum Mol Genet,1996

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1. Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review;Current Issues in Molecular Biology;2024-09-11

2. Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant;Clinical and Experimental Dermatology;2024-06-03

3. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa;British Journal of Dermatology;2019-08-09

4. Epidermolysis Bullosa;Atlas of Genetic Diagnosis and Counseling;2017

5. Epidermolysis Bullosa;Atlas of Genetic Diagnosis and Counseling;2016

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