# Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/nonsense-and-frameshift-mutations-in-zfhx1b-encoding-smad-interacting-protein-1/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Kenichiro Yamada,Yasukazu Yamada,Noriko Nomura,Kiyokuni Miura,Rie Wakako,Chiemi Hayakawa,Akiko Matsumoto,Toshiyuki Kumagai,Ikuko Yoshimura,Shuji Miyazaki,Kanefusa Kato,Shin‐ichi Sonta,Hiroshi Ono,Tsutomu Yamanaka,Masahiro Nagaya,Nobuaki Wakamatsu |
| Citations | 101 |
| DOI | 10.1086/324343 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707612476/pdf |
| OpenAlex ID | https://openalex.org/W2090762501 |
| PMID | 11592033 |
| Type | article |
| Year | 2001 |

## Paper authors

- [Akiko Matsumoto](https://scholariq.org/researchers/akiko-matsumoto/)

## 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/)
- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

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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.