| Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. | |
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MedLine Citation:
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PMID: 19921646 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high-arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high-resolution comparative genomic hybridization and SEPT9, SHH mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach-Rott syndrome. |
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Authors:
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Vered Shkalim; Hagit N Baris; Gavriel Gal; Ruth Gleiss; Shlomo Calderon; Marja Wessels; Anneke Maat-Kievit; Bj??rn Menten; Elfride De Baere; Raoul C M Hennekam; Anja Schirmacher; Sherri Bale; Mordechai Shohat; Patrick J Willems |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-11-30 Completed Date: 2010-01-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2700-5 Citation Subset: IM |
Affiliation:
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The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Cleft Palate / complications*, genetics* Comparative Genomic Hybridization Cytoskeletal Proteins / genetics Female GTP-Binding Proteins / genetics Genes, Dominant / genetics* Hedgehog Proteins / genetics Humans Hypertelorism / complications*, genetics* Infant, Newborn Male Mental Retardation / complications*, genetics Middle Aged Nuclear Proteins / genetics Pregnancy Syndrome Twist Transcription Factor / genetics Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Cytoskeletal Proteins; 0/Hedgehog Proteins; 0/Nuclear Proteins; 0/SHH protein, human; 0/TWIST1 protein, human; 0/Twist Transcription Factor; EC 3.6.1.-/GTP-Binding Proteins; EC 3.6.1.-/SEPT9 protein, human |
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