# Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/expanding-the-spectrum-of-mutations-in-gh1-and-ghrhr-genetic-screening-in-a/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Kyriaki S. Alatzoglou,James Turton,Daniel Kelberman,Peter Clayton,Ameeta Mehta,Charles Buchanan,Simon Aylwin,Elisabeth C. Crowne,Henrik Thybo Christesen,Niels Thomas Hertel,Peter Trainer,Martin O. Savage,Jamal Raza,Kausik Banerjee,Sunil Sinha,Svetlana Ten,Talat Mushtaq,Raja Brauner,Timothy Cheetham,Peter C. Hindmarsh,Primus E. Mullis,Mehul Dattani |
| Citations | 124 |
| DOI | 10.1210/jc.2008-2783 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | false |
| OA Status | closed |
| OpenAlex ID | https://openalex.org/W2107226581 |
| PMID | 19567534 |
| Type | article |
| Year | 2009 |

## Paper authors

- [Henrik Thybo Christesen](https://scholariq.org/researchers/henrik-thybo-christesen/)

## Paper journal

- [The Journal of Clinical Endocrinology & Metabolism](https://scholariq.org/journals/the-journal-of-clinical-endocrinology-and-metabolism/)

## Paper primary topic

- [Growth Hormone and Insulin-like Growth Factors](https://scholariq.org/topics/growth-hormone-and-insulin-like-growth-factors/)

## Paper topics

- [Growth Hormone and Insulin-like Growth Factors](https://scholariq.org/topics/growth-hormone-and-insulin-like-growth-factors/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Pituitary Gland Disorders and Treatments](https://scholariq.org/topics/pituitary-gland-disorders-and-treatments/)

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