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Article

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.

Acta dermato-venereologica - 6 Jul 2017

Severino-Freire Maella, Maza Aude, Lombardi Maria Paola, Tournier Emilie, Chassaing Nicolas, Mazereeuw-Hautier Juliette

Abstract excerpt

No abstract is available from the source.

Topics

Acyltransferases
Adolescent
DNA Mutational Analysis
Female
Focal Dermal Hypoplasia
Gene Deletion
Genetic Markers
Genetic Predisposition to Disease
Humans
Membrane Proteins
Mosaicism
Mutation
Phenotype
Skin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

Source

Identifiers

PMID: 28293688
DOI: 10.2340/00015555-2648

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Focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).Semantic proximity Read ↗

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.Semantic proximity Read ↗

Severe focal dermal hypoplasia in a female patient transmitted from a mildly affected mother.Semantic proximity Read ↗

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.Semantic proximity Read ↗

Gynecologic findings in Goltz syndrome: A case series.Semantic proximity Read ↗

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.Semantic proximity Read ↗

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.Semantic proximity Read ↗

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