title: Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis.
authors.affiliation: Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
authors.forename: Rathi
authors.initials: R
authors.lastname: Prasad
authors.affiliation: Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
authors.forename: Carole
authors.initials: C
authors.lastname: Brewer
authors.affiliation: Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.
authors.forename: Christine P
authors.initials: CP
authors.lastname: Burren
mesh_terms: D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006579:Heterozygote; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*
chemical_list: C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1