Results 71 to 80 of about 406,691 (285)

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. [PDF]

, 2017
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan ...
A. Buoncompagni (7809977), M. Bosticardo (7810001), Y. Yamazaki (7809932), B. Royer-Bertrand (7809980), E. J. Hagedorn (7809974), L. Du (5247950), G. E. Marcovecchio (7809962), K. Capuder (7809965), P. M. Brauer (7809935), J. Manis (7809995), E. van Rooijen (7809938), Carlo Rivolta (121162), P. Rath (7809968), K. Felgentreff (7809953), K. Hayashida (7669772), A. Slavotinek (3132495), S. Volpi (7809929), L. Imberti (7493441), F. E. Poulain (7809992), A. Superti-Furga (7810019), L. Zon (7810013), L. D. Notarangelo (7810022), L. Ott de Bruin (7809956), A. Hayashida (7809941), J. M. Puck (7810007), S. Giliani (7809983), A. Martini (2747845), P. W. Park (7810016), I. Bortolomai (7809950), G. Freedman (7809959), H. Lee (3953198), J. C. Zúñiga-Pflücker (7810010), H. Sun Kuehn (7809944), N. Luche (7809971), K. Dobbs (7809989), P. L. Poliani (7809986), R. J. Linhardt (7809998), M. Di Rocco (7809947), S. D. Rosenzweig (7810004)   +38 more
core   +4 more sources

Imaging features of a rare case of scapuloiliac dysostosis (Kosenow syndrome) in an ambulatory child

South African Journal of Radiology, 2011
Scapuloiliac dysostosis, also known as pelvis-shoulder dysplasia and Kosenow syndrome, is a rare skeletal dysplasia described first by Kosenow et al. in 1970.
John Joseph, Harish Narayanan, Jacob Varghese, Harish Babu, A Praveen   +4 more
doaj   +1 more source

A Rare Case of Thanatophoric Dysplasia [PDF]

, 2020
This case is presented for its rarity in the presentation of this dreaded skeletal dysplasia and it is important to differentiate this skeletal dysplasia from others due to overlapping appearance of features with other ...
T.K Renuka Devi, . R Durga
core  

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects – a cross-sectional survey study

BMC Musculoskeletal Disorders, 2020
Background Skeletal dysplasias are rare disorders often leading to severe short stature. This study aimed to gain new comprehensive information about functioning and equality in people affected by skeletal dysplasia compared to matched controls without ...
Hanna Hyvönen, Heidi Anttila, Susanna Tallqvist, Minna Muñoz, Sanna Leppäjoki-Tiistola, Antti Teittinen, Outi Mäkitie, Sinikka Hiekkala   +7 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

Frontiers in Pediatrics, 2020
Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause of DMC.
Nagwa E. A. Gaboon, Asia Parveen, Asia Parveen, Khaled A. Ahmad, Taghreed Shuaib, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Lereen Abdelwehab, Amina Arif, Naveed Wasif, Naveed Wasif, Naveed Wasif   +11 more
doaj   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Medial Quadriceps Tendon‐Femoral Ligament Reconstruction Offers Favorable Clinical Outcomes and Low Complication Rates for Recurrent Patellar Instability: A Systematic Review

Arthroscopy, EarlyView.
Abstract Purpose To evaluate the surgical methods, clinical outcomes, and complication profile of patients undergoing medial quadriceps tendon‐femoral ligament reconstruction (MQTFLR), either isolated or as medial patellofemoral complex reconstruction (MPFCR), for recurrent patellar instability.
Harjind Kahlon, Benjamin Blackman, Prushoth Vivekanantha, Anika Ranadive, Marc Daniel Bouchard, Darren de SA, Jeffrey Kay   +6 more
wiley   +1 more source

Protein kinase A is a dependent factor and therapeutic target in mouse models of fibrous dysplasia

Nature Communications
Fibrous dysplasia is a skeletal disorder caused by activating mutations in Gαs, leading to bone fractures, deformities, and pain. Protein kinase A (PKA), the principal effector of Gαs, plays critical roles in various biological processes.
Zhongyu Liu, Lu Xing, Wenlong Huang, Ning Ji, Hang Zhao, Qianming Chen, Xianglong Han, Ding Bai, Xuefeng Zhao   +8 more
doaj   +1 more source