Disease: Holoprosencephaly ectrodactyly cleft lip palate
- <em>FGFR1</em>-Related Hartsfield Syndrome
- A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
- Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case
- Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing
- Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
- Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
- FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
- Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis
- Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature
- Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report
- Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up
- Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes
- Holoprosencephaly, telecanthus and ectrodactyly: a second case
- Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?
- Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting
- Mosaicism in Hartsfield syndrome
- Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism
- Novel heterozygous mutation in the extracellular domain of <em>FGFR1</em> associated with Hartsfield syndrome
- Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
- Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature
- Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant
- Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report
- The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
- Vasopressin and gonadotropin deficiency in a boy with the ectrodactyly-ectodermal dysplasia-clefting syndrome