Results 41 to 50 of about 5,209 (186)
Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]
, 2016 First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C. +12 more
core +1 more source
Fibroblast growth factor signaling in skeletal development and disease [PDF]
, 2015 Fibroblast growth factor (FGF) signaling pathways are essential regulators of vertebrate skeletal development. FGF signaling regulates development of the limb bud and formation of the mesenchymal condensation and has key roles in regulating ...
Marie, Pierre J, Ornitz, David M
core +2 more sources
Oral findings in patients with Apert Syndrome Achados bucais em pacientes com Síndrome de Apert
Journal of Applied Oral Science, 2006 INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface ...
Gisele da Silva Dalben +2 more
doaj +1 more source
Apert syndrome: A rare case requiring multidisciplinary approach for a better living
TNOA Journal of Ophthalmic Science and Research, 2021 A 7-year-old boy presented with watering, prominent eyes and defective vision. He had brachycephaly, hypertelorism, shallow proptotic orbits, large exotropia, and syndactyly of the hands and feet.
Sasikala A Elizabeth +1 more
doaj +1 more source
Apert Syndrome: orthopedic treatment [PDF]
, 2011 El Síndrome de Apert es un trastorno autosómico dominante, caracterizado por craneosinostosis, hipoplasia del tercio medio de la cara y sindactilia de manos y pies.
Alonso Tajes, Francisco +3 more
core +2 more sources
Infrared venography of the hand in Apert syndrome
Indian Journal of Plastic Surgery, 2013 As well as craniofacial synostosis, complex syndactyly of hands is a distinctive feature of Apert syndrome. Consideration of blood flow to the digits is very important in separation surgery.
Soh Nishimoto +5 more
doaj +1 more source
Culture: Not just Burns – what about the poet Robert Fergusson? [PDF]
, 2016 No abstract ...
Bismarck F Hernández-Álvarez +8 more
core +3 more sources
Genome-wide search for strabismus susceptibility loci. [PDF]
, 2003 The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake +6 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
The Journal of the Association of Physicians of India, 2015 Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.
Saikat, Datta +4 more
+6 more sources