, 2015 Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J +11 more
core +1 more source
Tricho-rhino-phalangeal syndrome type I as a “cis-ruption disorder” caused by a translocation [PDF]
, 2011 Tricho-rhino-phalangeal syndrome type I (TRPS I; OMIM 190350) and type II (OMIM 150230) are two forms of the rare autosomal-dominant TRP malformation syndrome localised in 8q23.3–24.1.
Araújo, Carlos +7 more
core
Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family. [PDF]
Medicina (Kaunas), 2022 Ajmal M +5 more
europepmc +1 more source
The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses. [PDF]
Clin Case Rep, 2022 Liu W, Shi X, Li Y, Qiao F, Wu Y.
europepmc +1 more source
A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin [PDF]
, 2011 Beckwith–Wiedemann syndrome (BWS) is a disorder of growth regulation exhibiting somatic overgrowth and predisposition to paediatric tumours. With an incidence estimated at 1 in 13,700, it is caused by various epigenetic and/or genetic alterations ...
Alves, Cristina +6 more
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EXPERIENCE IN SURGICAL MANAGEMENT OF FOREARM DEFORMITIES IN CHILDREN WITH HEREDITARY MULTIPLE EXOSTOSES [PDF]
, 2020 Alexander P. Pozdeev +2 more
openalex +1 more source
A Case Report of Trevor's Disease in a Pediatric Patient with Hereditary Multiple Exostoses Disease. [PDF]
J Orthop Case Rep, 2021 Torrez TW, Marks E, Strom S, Doyle JS.
europepmc +1 more source
Chest wall osteochondroma resection with biologic acellular bovine dermal mesh reconstruction in pediatric hereditary multiple exostoses: A case report and review of literature. [PDF]
World J Clin Cases, 2023 Alshehri A.
europepmc +1 more source