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Quoted phrase not found in phrase index: "Geleophysic dysplasia 2"
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Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V. Marzin P, et al. Genet Med. 2021 Feb;23(2):331-340. doi: 10.1038/s41436-020-00994-x. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082559 Free article.
PURPOSE: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extremities, and progressive joint limitation. In GD, cardiorespiratory involvement can result in poor prognosis. Dominant variants in th …
PURPOSE: Geleophysic dysplasia (GD) and acromicric dysplasia (AD) are characterized by short stature, short extr …
O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations.
Zhang A, Berardinelli SJ, Leonhard-Melief C, Vasudevan D, Liu TW, Taibi A, Giannone S, Apte SS, Holdener BC, Haltiwanger RS. Zhang A, et al. J Biol Chem. 2020 Nov 13;295(46):15742-15753. doi: 10.1074/jbc.RA120.014557. Epub 2020 Sep 10. J Biol Chem. 2020. PMID: 32913123 Free PMC article.
ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder, geleophysic dysplasia 1 (GPHYSD1), which is characterized by short stature, small hands and feet, and cardiac defects. ...To investigate the effects of TSR glycosylation on ADAMTSL2 function …
ADAMTSL2 mutations cause an autosomal recessive connective tissue disorder, geleophysic dysplasia 1 (GPHYSD1), which is charac …
Novel mutations in geleophysic dysplasia type 1.
Porayette P, Fruitman D, Lauzon JL, Le Goff C, Cormier-Daire V, Sanders SP, Pinto-Rojas A, Perez-Atayde AR. Porayette P, et al. Pediatr Dev Pathol. 2014 May-Jun;17(3):209-16. doi: 10.2350/13-08-1370-CR.1. Epub 2013 Nov 19. Pediatr Dev Pathol. 2014. PMID: 24251637
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. ...Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene. ...
Geleophysic dysplasia (GD) is a rare genetic disorder characterized by acromelic dysplasia. ...Geleophysic dysplasia …
Perthes-like changes in geleophysic dysplasia.
Keret D, Lokiec F, Hayek S, Segev E, Ezra E. Keret D, et al. J Pediatr Orthop B. 2002 Apr;11(2):100-3. doi: 10.1097/00009957-200204000-00003. J Pediatr Orthop B. 2002. PMID: 11943981
Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures. This report describes a case of a patient with unilateral Legg-Calve-Perthes-like changes associated wi …
Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, br …
Clinical and morphological phenotype of geleophysic dysplasia.
Giray O, Kýr M, Bora E, Saylam G, Ugurlu B, Gürel D. Giray O, et al. Ann Trop Paediatr. 2008 Jun;28(2):161-4. doi: 10.1179/146532808X302206. Ann Trop Paediatr. 2008. PMID: 18510828
Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive course. ...
Geleophysic dysplasia (GD) is a rare, recessively inherited lysosomal storage disorder of unknown origin with a progressive …
Orthopedics management of acromicric dysplasia: follow up of nine patients.
Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V. Klein C, et al. Am J Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139. Epub 2013 Dec 11. Am J Med Genet A. 2014. PMID: 24339047
Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age. ...
Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and …