| New clinical observations in the trichorhinophalangeal syndrome. | |
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MedLine Citation:
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PMID: 7341639 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two unrelated Jewish families are reported with new clinical and radiographic findings observed in the trichorhinophalangeal syndrome (TRPS). These new observations are mainly of a skeletal nature and emphasize the wide range of expressivity found in the TRPS. Furthermore, these bony defects along with the characteristic hair changes suggest that the basic defect in this syndrome involves some developmental alteration in the normal growth and maturation of bone and hair. |
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Authors:
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R M Goodman; R Trilling; M Hertz; H Horoszowski; P Merlob; S Reisner |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of craniofacial genetics and developmental biology Volume: 1 ISSN: 0270-4145 ISO Abbreviation: J. Craniofac. Genet. Dev. Biol. Publication Date: 1981 |
Date Detail:
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Created Date: 1982-07-19 Completed Date: 1982-07-19 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8109845 Medline TA: J Craniofac Genet Dev Biol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 15-29 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology*,
radiography Adult Aged Bone and Bones / abnormalities Child, Preschool Female Hair / abnormalities Humans Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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