Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

Type 1 Fibroblast Growth Factor Receptor in Cranial Neural Crest Cell-derived Mesenchyme Is Required for Palatogenesis

(2013) Cong Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

(2013) Nicolas Simonis et al.   JOURNAL OF MEDICAL GENETICS

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

(2013) Audrey Vizeneux et al.   PLoS One

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting

(2012) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

(2010) Amelia A. Keaton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

(2009) Catheline Vilain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A