Article
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
American journal of medical genetics. Part A - 1 Sept 2014
Dhamija Radhika, Kirmani Salman, Wang Xiangling, Ferber Matthew J, Wieben Eric D, Lazaridis Konstantinos N, Babovic-Vuksanovic Dusica
Abstract excerpt
Hartsfield syndrome has been recently reported to be associated with mutations in FGFR1 however, to this date; no familial cases have been reported. In this report, we describe two siblings with Hartsfield syndrome and a novel de novo FGFR1 mutation suggesting gonadal mosaicism. The proband presented at our institution at age 6 years with a clinical diagnosis of Hartsfield syndrome and requesting further genetic...
Topics
- Adult
- Child
- Cleft Lip
- Cleft Palate
- Facies
- Fingers
- Gonads
- Hand Deformities, Congenital
- Heterozygote
- Holoprosencephaly
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability