De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf [PDF]
BMC Genomics, 2021 Background Bovine frontonasal dysplasias like arhinencephaly, synophthalmia, cyclopia and anophthalmia are sporadic congenital facial malformations. In this study, computed tomography, necropsy, histopathological examinations and whole genome sequencing ...
Marina Braun +6 more
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Alx1 Deficient Mice Recapitulate Craniofacial Phenotype and Reveal Developmental Basis of ALX1-Related Frontonasal Dysplasia [PDF]
Frontiers in Cell and Developmental Biology, 2022 Loss of ALX1 function causes the frontonasal dysplasia syndrome FND3, characterized by severe facial clefting and microphthalmia. Whereas the laboratory mouse has been the preeminent animal model for studying developmental mechanisms of human ...
Paul P. R. Iyyanar +9 more
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Frontonasal dysplasia: A case report. [PDF]
Arch Craniofac Surg, 2019 Frontonasal dysplasia is an uncommon congenital anomaly with diverse clinical phenotypes and highly variable clinical characteristics, including hypertelorism, a broad nasal root, median facial cleft, a missing or underdeveloped nasal tip, and a widow's peak hairline.
Lee SI, Lee SJ, Joo HS.
europepmc +4 more sources
Zebrafish models of alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye [PDF]
Biology Open, 2022 The cellular and genetic mechanisms that coordinate formation of facial sensory structures with surrounding skeletal and soft tissue elements remain poorly understood.
Baul Yoon +10 more
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ALX1‐related frontonasal dysplasia results from defective neural crest cell development and migration [PDF]
EMBO Molecular Medicine, 2020 A pedigree of subjects presented with frontonasal dysplasia (FND). Genome sequencing and analysis identified a p.L165F missense variant in the homeodomain of the transcription factor ALX1 which was imputed to be pathogenic. Induced pluripotent stem cells
Jonathan Pini +11 more
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Neural crest cell survival is dependent on Rho kinase and is required for development of the mid face in mouse embryos. [PDF]
PLoS ONE, 2012 Neural crest cells (NCC) give rise to much of the tissue that forms the vertebrate head and face, including cartilage and bone, cranial ganglia and teeth.
Helen M Phillips +5 more
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Frontonasal dysplasia: a review
Journal of Biochemical and Clinical Genetics, 2018 Frontonasal dysplasia (FND) is a rare complex genetic facial malformation, mostly characterized by affecting the face and head regions of the body. Craniofacial defects can have a severe impact, revealing different types of clinical phenotypes, which are
Muhammad Umair +3 more
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Detection of regions of homozygosity in an unusual case of frontonasal dysplasia [PDF]
Molecular CytogeneticsWe present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father–daughter). A cytogenetic study revealed a normal karyotype.
César Paz-y-Miño +6 more
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A rare homozygous ALX4 mutation in a Bangladeshi girl with frontonasal dysplasia type-2 (FND2) [PDF]
HeliyonBackground: Frontonasal dysplasia type-2(FND2), a rare phenotypically variable and heterogeneous developmental anomaly resulting from mutation of the ALX4 gene, is primarily characterized by malformation of the skull and facial skeleton.
Barna Goswami +11 more
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Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia [PDF]
Frontiers in PhysiologySPECC1L encodes a cytoskeletal scaffolding protein that interacts with filamentous actin, microtubules, and cell junctional components. In humans, autosomal dominant mutations in SPECC1L cause a syndrome characterized by craniofrontonasal anomalies ...
An J. Tran +10 more
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