# De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of <i>EFNB2</i> in patients with anorectal malformations

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/de-novo-13q-deletions-in-two-patients-with-mild-anorectal-malformations-as-part/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Gabriel C. Dworschak,Markus Draaken,Carlo Marcelis,Ivo de Blaauw,Rolph Pfundt,Iris A.L.M. van Rooij,Enrika Bartels,Alina C. Hilger,Ekkehart Jenetzky,Eberhard Schmiedeke,Sabine Grasshoff‐Derr,Dominik Schmidt,Stefanie Märzheuser,Stuart Hosie,Sandra Weih,Stefan Holland‐Cunz,Markus Palta,Johannes Leonhardt,Frank‐Mattias Schäfer,Christina Kujath,Anke Rißmann,Markus M. Nöthen,Nadine Zwink,Michael Ludwig,Heiko Reutter |
| Citations | 66 |
| DOI | 10.1002/ajmg.a.36153 |
| Fields | Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2003936773 |
| PMID | 24038947 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Gabriel C. Dworschak](https://scholariq.org/researchers/gabriel-c-dworschak/)

## Paper journal

- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)

## Paper primary topic

- [Congenital gastrointestinal and neural anomalies](https://scholariq.org/topics/congenital-gastrointestinal-and-neural-anomalies/)

## Paper topics

- [Congenital gastrointestinal and neural anomalies](https://scholariq.org/topics/congenital-gastrointestinal-and-neural-anomalies/)
- [Esophageal and GI Pathology](https://scholariq.org/topics/esophageal-and-gi-pathology/)
- [Gastrointestinal disorders and treatments](https://scholariq.org/topics/gastrointestinal-disorders-and-treatments/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.