Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism
Author:
Affiliation:
1. Department of Medical Genetics; Mayo Clinic; Rochester Minnesota
2. Center for Individualized Medicine; Mayo Clinic; Rochester Minnesota
3. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota
Funder
Mayo Clinic Center for Individualized Medicine
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36621/fullpdf
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4. Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes;Costa-Barbosa;J Clin Endocrinol Metab,2013
5. Syndrome identification case report 119. Hypertelorism associated with holoprosencephaly and ectrodactyly;Hartsfield;Clin Dysmorphol,1984
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1. Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report;International Journal of Clinical Pediatric Dentistry;2023-03-21
2. Mosaicism in Hartsfield syndrome;European Journal of Medical Genetics;2022-05
3. Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism;Genetics in Medicine;2020-11
4. Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1;Journal of the Endocrine Society;2020-04-02
5. Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome;American Journal of Medical Genetics Part A;2019-09-11
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