Results 41 to 50 of about 1,628 (156)

Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses

Bone Reports, 2022
Objective: Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating Fibroblast Growth Factor Receptor ...
Caroline Ea, Quentin Hennocq, Arnaud Picard, Michel Polak, Corinne Collet, Laurence Legeai-Mallet, Éric Arnaud, Giovanna Paternoster, Roman Hossein Khonsari   +8 more
doaj   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1062-1068, May 2026.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA – TWO CASE REPORTS [PDF]

, 2019
Osteohondrodisplazije velika su skupina rijetkih genskih bolesti karakterizirana poremećajem rasta i razvoja hrskavice i kosti. Često su povezane s malformacijama drugih organskih sustava.
Gall, Vesna, Saftić, Vanja, Bilić, Nada, Radulović, Petra, Djaković, Ivka, Košec, Vesna   +5 more
core   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients

Orphanet Journal of Rare Diseases, 2023
Background Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea.
Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub, Roman Hossein Khonsari   +12 more
doaj   +1 more source

Additional file 3: of Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1

, 2016
Candidate genes for chondrodysplasia. OMIM database search for genes associated with osteochondrodysplasia/chondrodysplasia and their genomic position in the cattle genome.
Jørgen Agerholm (3418700), Cord DrĂśgemĂźller (3428597), Fiona Menzi (3249759), Fintan McEvoy (3428564), Vidhya Jagannathan (13914)   +4 more
core   +1 more source

Table_1_A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.docx

, 2022
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are still
Sanna Toiviainen-Salo (6095393), Ilkka Kaitila (12187073), Riikka E. Mäkitie (5494082), Outi Mäkitie (317072)   +3 more
core   +1 more source

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene

, 2007
A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years.
Mortier, GeertUGent801001464050971290952889F606A6E0-F0ED-11E1-A9DE-61C894A0A6B4, Nuytinck, LieveCA208010006721850000-0002-5165-6937F451339C-F0ED-11E1-A9DE-61C894A0A6B4, Naeyaert, Jean-Marie, Leroy, Juliaan, Lambert, JoGE34UZGent8010010521050000-0001-5303-9310F4F50E9A-F0ED-11E1-A9DE-61C894A0A6B4, Leroy, JuliaanUGent801000049870979432512594FC44A412-F0ED-11E1-A9DE-61C894A0A6B4, Mortier, Geert, Jean‐Marie Naeyaert, Lambert, Jo, Nuytinck, Lieve, Geert R. Mortier, Lieve Nuytinck, Jo Lambert, Jules G. Leroy   +13 more
core   +1 more source

The Golgi matrix protein giantin is required for normal cilia function in zebrafish

Biology Open, 2017
The Golgi is essential for glycosylation of newly synthesised proteins including almost all cell-surface and extracellular matrix proteoglycans. Giantin, encoded by the golgb1 gene, is a member of the golgin family of proteins that reside within the ...
Dylan J. M. Bergen, Nicola L. Stevenson, Roderick E. H. Skinner, David J. Stephens, Christina L. Hammond   +4 more
doaj   +1 more source

Loss of TANGO1 Leads to Absence of Bone Mineralization

JBMR Plus, 2021
TANGO1 (transport and Golgi organization‐1 homolog) encodes a transmembrane protein, which is located at endoplasmic reticulum (ER) exit sites where it binds bulky cargo, such as collagens, in the lumen and recruits membranes from the ER‐Golgi ...
Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, Fransiska Malfait, Sofie Symoens   +4 more
doaj   +1 more source