Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome)
| Autor: | Mary Fete, Timothy J. Fete, Kathleen J. Motil |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male Ectodermal dysplasia medicine.medical_specialty Pediatrics Constipation Adolescent Nutritional Status Short stature Gastroenterology 03 medical and health sciences Young Adult Internal medicine Genetics medicine Humans Body Weights and Measures Gastroparesis Child Genetics (clinical) business.industry Infant Anthropometry Middle Aged medicine.disease Focal dermal hypoplasia Focal Dermal Hypoplasia Malnutrition 030104 developmental biology Phenotype Child Preschool Body Composition Female medicine.symptom Underweight business |
| Zdroj: | American journal of medical genetics. Part C, Seminars in medical genetics. (1) |
| ISSN: | 1552-4876 |
| Popis: | Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P |
| Databáze: | OpenAIRE |
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