Phenotypic and microscopic description of a new case of Ermine phenotype.

doi:10.1002/ajmg.a.32815

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Article

Phenotypic and microscopic description of a new case of Ermine phenotype.

American journal of medical genetics. Part A - 1 Jun 2009

Zarate Yuri A, Pacheco M Cristina, Bove Kevin E, Gorlin Robert, Zhao Huiquan, Hopkin Robert J

Abstract excerpt

We describe a new case of Ermine phenotype. The patient had the striking pattern of skin and hair involvement that characterize the condition, global developmental delay, growth retardation, microcephaly, and bilateral hearing loss. Results of extensive workup for several other neurologic, metabolic, mitochondrial, genetic and chromosomal conditions were normal. Microscopic examination demonstrated normal numbers...

Topics

Child
Female
Hair Color
Hearing Loss, Sensorineural
Humans
Melanins
Melanocytes
Melanosomes
Phenotype
Pigmentation Disorders
Skin Pigmentation

Source

Open in PubMed

Identifiers

PMID: 19449401
DOI: 10.1002/ajmg.a.32815

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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