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Schwoebel, Marcus G; Hirsig, Johannes; Schinzel, Albert; Stauffer, Urs G (1984). Familial incidence of congenital anorectal anomalies. Journal of Pediatric Surgery, 19(2):179-182.
We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Children's Hospital Zurich > Clinic for Surgery |
| Dewey Decimal Classification: | 610 Medicine & health
570 Life sciences; biology |
| Scopus Subject Areas: | Health Sciences > Surgery
Health Sciences > Pediatrics, Perinatology and Child Health |
| Uncontrolled Keywords: | General Medicine, Pediatrics, Perinatology and Child Health, Surgery, Genetics, Genetics (clinical), Anorectal anomalies, multifactorial inheritance |
| Language: | English |
| Date: | 1 April 1984 |
| Deposited On: | 04 Apr 2024 11:11 |
| Last Modified: | 30 Dec 2024 04:38 |
| Publisher: | Elsevier |
| ISSN: | 0022-3468 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1016/s0022-3468(84)80444-3 |
| PubMed ID: | 6726575 |
| Other Identification Number: | Corpus ID: 377495 |
Schwoebel, Marcus G