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Article

Cohen syndrome in the Ohio Amish.

American journal of medical genetics. Part A - 1 Jul 2004

Falk Marni J, Feiler Heidi S, Neilson Derek E, Maxwell Kathleen, Lee James V, Segall Samantha K, Robin Nathaniel H, Wilhelmsen Kirk C, Träskelin Ann-Liz, Kolehmainen Juha, Lehesjoki Anna-Elina, Wiznitzer Max, Warman Matthew L

Abstract excerpt

We describe eight members from two large Amish kindreds who share a phenotype characterized by early-onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, common facial appearance, and friendly disposition. Several of the children had intermittent granulocytopenia. The phenotypic...

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PMID: 15211651
DOI: 10.1002/ajmg.a.30033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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