Articles with "multiple hereditary" as a keyword



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Use of Pediatric Outcomes Data Collection Instrument to Evaluate Functional Outcomes in Multiple Hereditary Exostoses

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Published in 2023 at "Journal of Pediatric Orthopaedics"

DOI: 10.1097/bpo.0000000000002372

Abstract: Background: The Pediatric Outcomes Data Collection Instrument (PODCI) is a validated quality-of-life questionnaire with 6 domains designed to provide a standardized method of measuring outcomes in pediatric musculoskeletal conditions. To our knowledge there are no… read more here.

Keywords: data collection; collection instrument; multiple hereditary; pediatric outcomes ... See more keywords
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SUFU‐associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma

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Published in 2023 at "Australasian Journal of Dermatology"

DOI: 10.1111/ajd.14014

Abstract: Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary… read more here.

Keywords: cell carcinoma; basal; basal cell; multiple hereditary ... See more keywords