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GAPO syndrome: a novel variant in ANTXR1 gene.
Ophthalmic Genet
August 2024
VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India.
Background: GAPO syndrome is a rare autosomal recessive disorder characterized by the acronym of growth retardation, alopecia, pseudo-anodontia and progressive optic atrophy. While the genetic alteration of the gene has been known for its cause, the full range of its clinical and genetic manifestations is not well explored due to the syndrome's extreme rarity.
Materials/methods: We report two children born to a non-consanguineous parent in India with classical features of GAPO syndrome.
Distribution of variants in patients with early onset glaucoma.
Mol Vis
April 2024
Department of Biophysics, All India Institute of Medical Sciences, New Delhi.
Article Synopsis
- - The study investigates a new genetic link between certain variants and congenital glaucoma within a family affected by GAPO syndrome, along with other unrelated cases of juvenile open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG).
- - Researchers identified three girls with GAPO syndrome from a consanguineous family, two of whom had congenital glaucoma, and discovered a unique mutation in all affected siblings, indicating a potential common genetic factor.
- - Additional findings revealed rare variants shared among other patients with JOAG and PCG, suggesting the need for further research to understand how these genetic variations may contribute to the development of these glaucomas.
Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Adv Exp Med Biol
August 2023
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, "Aghia Sophia" Children's Hospital, Athens, Greece.
Introduction: Ectodermal dysplasias are a group of >200 clinically and congenitally heterogeneous disorders characterized by abnormal development in the ectodermal structures, such as hair, nails, teeth, and sweat glands. We report here the clinical and molecular genetic analysis of five Greek families with different types of ectodermal dysplasia (ED).
Subjects: The study involved 15 individuals from 5 Greek families that included 8 ED patients, 5 carriers of recessive X-linked or autosomal ED, and 2 healthy relatives.
A novel mutation in in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
Bone Rep
December 2023
Department of Pediatric Endocrinology, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, the Netherlands.
Mutations in (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short stature. In this report we describe three siblings and their mother with a novel heterozygous mutation c.25 T > C, p.
View Article and Find Full Text PDFHypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects structures derived from the ectoderm during embryonic development. These structures include the outermost layer of the primary germ layers, which give rise to various body parts such as the ears, eyes, lips, and mucous membranes of the nose and mouth. Due to the impact on these structures, hypohidrotic ectodermal dysplasia can manifest differently in various age groups.
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