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Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report
Author(s) -
Dallapiccola B.,
Mingarelli R.,
Obregon G.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04023.x
Subject(s) - neutropenia , cyclic neutropenia , medicine , pediatrics , genetic syndromes , chemotherapy
Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome (ONMRS) is a rare autosomal recessive mutation, mostly reported in patients of Mexican ancestry. We describe a second patient with onychotrichodysplasia and chronic neutropenia without mental retardation (ONS). It is unclear if ONS found in the two European patients with normal mental development is due to genetic heterogeneity or variable expressivity of the same syndrome.