Differences between the Hoyeraal-Hreidarsson syndrome and an autosomal recessive congenital intrauterine infection-like syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference5 articles.
1. The Hoyeraal-Hreidarsson syndrome: The fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia
2. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection
3. CONGENITAL HYPOPLASTIC THROMBOCYTOPENIA AND CEREBRAL MALFORMATIONS IN TWO BROTHERS
4. A Syndrome of Progressive Pancytopenia with Microcephaly, Cerebellar Hypoplasia and Growth Failure
5. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease
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1. Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype;American Journal of Medical Genetics Part A;2008-12-15
2. Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo-TORCH or a new syndrome;American Journal of Medical Genetics Part A;2008-11-15
3. Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome);American Journal of Medical Genetics;2003-06-23
4. Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria;Brain and Development;2001-02
5. Familial Cerebellar Hypoplasia and Pancytopenia without Chromosomal Breakages;Neuropediatrics;1998-12
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