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Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation : Delineation of the syndrome

✍ Scribed by Alejandro Hernández; Francisco Olivares; José-María Cantú


Book ID
119838902
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
505 KB
Volume
15
Category
Article
ISSN
0009-9163

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We report on 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents (inbreeding coefficient F=1/64) have 6 other offspring, 3 of whom died in infancy of type I1 osteogenesi