Hartsfield syndrome associated with a novel heterozygous missense mutation inFGFR1and incorporating tumoral calcinosis-Reference-Cited by-同舟云学术

Hartsfield syndrome associated with a novel heterozygous missense mutation inFGFR1and incorporating tumoral calcinosis

Published:2016-05-12 Issue:8 Volume:170 Page:2222-2225
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prasad Rathi¹,Brewer Carole²,Burren Christine P.¹

Affiliation:

1. Department of Paediatric Endocrinology; Bristol Royal Hospital for Children; University Hospitals Bristol NHS Foundation Trust; Bristol United Kingdom

2. Department of Clinical Genetics; Royal Devon & Exeter Hospital; Exeter United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia;Benet-Pages;Hum Mol Genet,2005

2. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism;Dhamija;Am J Med Genet Part A,2014

3. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome;Dode;Nat Genet,2003

4. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome;Hong;Hum Mol Genet,2016

5. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis;Ichikawa;J Clin Invest,2007

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3. Hyperphosphatemic Tumoral Calcinosis: Pathogenesis, Clinical Presentation, and Challenges in Management;Frontiers in Endocrinology;2020-05-08

4. Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1;Journal of the Endocrine Society;2020-04-02

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