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Article

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.

American journal of medical genetics - 5 Nov 1999

Mori P G, Priolo M, Lerone M, Pasino M, Caroli F, Cusano R, Seri M, Silengo M C

Abstract excerpt

We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingernails, low birth weight, failure to thrive, and repeated upper respiratory tract infections. Based on family history,...

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PMID: 10528244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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