Výsledky vyhledávání - "Melissa D. Lah"

Akademický článek

Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

Autor: Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm

Publikováno v: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)

Abstract Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurat

Externí odkaz: https://doaj.org/article/c2f6926b75584a169aec0e6ed77b3a2d

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Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy

Autor: Anita N. Haggstrom, Melissa D. Lah, Omar Bari, Sarah Skillman

Publikováno v: Pediatric dermatology. 35(4)

Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar ke

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7419a6b7fc9dd9ebb322ea2f8e852186
https://pubmed.ncbi.nlm.nih.gov/29633331

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