| Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway? | |
MedLine Citation:
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PMID: 17324647 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). This feature along with fetal pads was present in both children at birth and has persisted until age two years. Distal phalangeal creases, when present, may be a good diagnostic handle for syndromes belonging to the RAS signalling pathway. |
Authors:
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Karen Helene Ørstavik; Trine Tangeraas; Anders Molven; Trine E Prescott |
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Publication Detail:
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Type: Journal Article Date: 2007-01-20 |
Journal Detail:
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Title: European journal of medical genetics Volume: 50 ISSN: 1769-7212 ISO Abbreviation: Eur J Med Genet Publication Date: 2007 Mar-Apr |
Date Detail:
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Created Date: 2007-03-19 Completed Date: 2007-05-29 Revised Date: 2008-05-28 |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 155-8 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child, Preschool Female Finger Phalanges / abnormalities* Humans Noonan Syndrome / diagnosis*, genetics Proto-Oncogene Proteins p21(ras) / genetics* Signal Transduction / genetics* Skin Abnormalities / diagnosis, genetics* ras Proteins / genetics, metabolism* |
| Chemical | |
Reg. No./Substance:
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EC 3.6.5.2/HRAS protein, human; EC 3.6.5.2/Proto-Oncogene Proteins p21(ras); EC 3.6.5.2/ras Proteins |
| Comments/Corrections | |
Comment In:
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Eur J Med Genet. 2007 Nov-Dec;50(6):482-3
[PMID:
17974516
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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