Embryonic expression of the human MID 1 gene and its mutations in Opitz syndrome
Article Abstract:
Opitz syndrome is a midline congenital malformation characterized by hypertelorism, hypospadias and oesophagolaryngotracheal defects, which leads to swallowing difficulties and hoarse voice. The role of MID 1 during embryonic development is investigated through expression studies.
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation
Article Abstract:
A study was conducted on the break points of a de novo translocation t(X;9)(p11.23;q34.3) in a mentally retarded female, which disrupted the gene ZNF81 on the X chromosome. The studies suggested that ZNF81 was causative for non-specific X-lined mental retardation.
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
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