# Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/temtamy-preaxial-brachydactyly-syndrome-is-caused-by-loss-of-function-mutations/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Yun Li,Kathrin Laue,Samia A. Temtamy,Mona Aglan,Leman Damla Kotan,Gökhan Yigit,Husniye Canan,Barbara Pawlik,Gudrun Nürnberg,Emma Wakeling,Oliver Quarrell,Ingelore Baessmann,Matthew B. Lanktree,M. Yılmaz,Robert A. Hegele,Khalda Amr,Klaus W. May,Peter Nürnberg,A. Kemal Topaloğlu,Matthias Hammerschmidt,Bernd Wollnik |
| Citations | 97 |
| DOI | 10.1016/j.ajhg.2010.10.003 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929710005197/pdf |
| OpenAlex ID | https://openalex.org/W2014787044 |
| PMID | 21129728 |
| Type | article |
| Year | 2010 |

## Paper authors

- [Khalda Amr](https://scholariq.org/researchers/khalda-amr/)

## Paper primary topic

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)

## Paper topics

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Proteoglycans and glycosaminoglycans research](https://scholariq.org/topics/proteoglycans-and-glycosaminoglycans-research/)
- [Developmental Biology and Gene Regulation](https://scholariq.org/topics/developmental-biology-and-gene-regulation/)

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