| A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis. | |
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MedLine Citation:
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PMID: 20358606 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity. |
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Authors:
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Gülen Eda Utine; Jeroen Breckpot; Bernard Thienpont; Yasemin Alanay; Cemalettin Aksoy; Koray Boduroğlu; Koenraad Devriendt |
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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: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-01 Completed Date: 2010-07-08 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: 947-9 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey. geutine@hacettepe.edu.tr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Child Child, Preschool Facies Female Foot Deformities, Congenital / complications, radiography Growth Disorders / complications* Hand Deformities, Congenital / complications*, radiography Hearing Loss / complications* Hip / abnormalities Humans Infant Infant, Newborn Mental Retardation / complications* Microcephaly / complications* Orbital Diseases / complications* Pregnancy Scoliosis / complications, radiography Syndrome |
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