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Page 1
GAPO syndrome: a report of two siblings and a review of literature.
Nanda A, Al-Ateeqi WA, Al-Khawari MA, Alsaleh QA, Anim JT. Nanda A, et al. Pediatr Dermatol. 2010 Mar-Apr;27(2):156-61. doi: 10.1111/j.1525-1470.2010.01100.x. Pediatr Dermatol. 2010. PMID: 20537066 Review.
Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molecular nature of the disease is not fully understood and is considered to be one of the ectodermal dysplasia defects. ...
Growth retardation, alopecia, pseudoanodontia, optic atrophy (GAPO) syndrome is a rare autosomal recessive disorder. The molec …
GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.
Goloni-Bertollo EM, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC. Goloni-Bertollo EM, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1523-9. doi: 10.1002/ajmg.a.32157. Am J Med Genet A. 2008. PMID: 18470892 Review.
The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medica …
The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retard …
GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis.
Bacon W, Hall RK, Roset JP, Boukari A, Tenenbaum H, Walter B. Bacon W, et al. J Craniofac Genet Dev Biol. 1999 Oct-Dec;19(4):189-200. J Craniofac Genet Dev Biol. 1999. PMID: 10731088 Review.
The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. ...
The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. ...
Converging physiological roles of the anthrax toxin receptors.
Sergeeva OA, van der Goot FG. Sergeeva OA, et al. F1000Res. 2019 Aug 12;8:F1000 Faculty Rev-1415. doi: 10.12688/f1000research.19423.1. eCollection 2019. F1000Res. 2019. PMID: 31448094 Free PMC article. Review.
In the last few years, insight into their endogenous roles has come from two rare diseases: hyaline fibromatosis syndrome, caused by mutations in CMG2, and growth retardation, alopecia, pseudo-anodontia, and optic atrophy (GAPO) syndrome, caused by loss-of-function …
In the last few years, insight into their endogenous roles has come from two rare diseases: hyaline fibromatosis syndrome, caused by mutatio …
GAPO Syndrome-A Rare Cause of Osteomyelitis of Jaws; Report of 4 Cases With a Brief Review of the Literature.
Puranik RS, Puranik SR, Hallur N, Venkatesh D. Puranik RS, et al. J Oral Maxillofac Surg. 2018 Jun;76(6):1216-1225. doi: 10.1016/j.joms.2017.12.002. Epub 2017 Dec 12. J Oral Maxillofac Surg. 2018. PMID: 29304326 Review.
GAPO syndrome is characterized by growth retardation, alopecia, pseudoanodontia, and ophthalmic abnormalities. ...Pseudoanodontia is a rare clinical and radiologic manifestation that is always associated with GAPO syndrome. Osteomyelitis of the jaws is …
GAPO syndrome is characterized by growth retardation, alopecia, pseudoanodontia, and ophthalmic abnormalities. ...Pseudoanodon …
GAPO syndrome: a new case.
Sandgren G. Sandgren G. Am J Med Genet. 1995 Jul 31;58(1):87-90. doi: 10.1002/ajmg.1320580117. Am J Med Genet. 1995. PMID: 7573163 Review.
The fifteenth known case of GAPO syndrome is presented: a probable autosomal-recessive condition of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and optic atrophy. ...
The fifteenth known case of GAPO syndrome is presented: a probable autosomal-recessive condition of growth retardation, alopec …
Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review.
Balakrishnan S, Goud I, Teegala ML. Balakrishnan S, et al. Eur J Med Genet. 2024 Apr;68:104929. doi: 10.1016/j.ejmg.2024.104929. Epub 2024 Feb 28. Eur J Med Genet. 2024. PMID: 38423276 Free article. Review.
GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems ha …
GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core f …
Fell-Muir Lecture: Regulatory mechanisms of skeletal and connective tissue development and homeostasis - lessons from studies of human disorders.
Olsen BR, Berendsen AD, Besschetnova TY, Duan X, Hu K. Olsen BR, et al. Int J Exp Pathol. 2016 Aug;97(4):296-302. doi: 10.1111/iep.12198. Epub 2016 Sep 1. Int J Exp Pathol. 2016. PMID: 27581728 Free PMC article. Review.
Studies of a mouse model of the Growth Retardation, Alopecia, Pseudo-anodontia and Optic Atrophy (GAPO) syndrome, caused by the loss-of-function mutations in ANTXR1, as well as knock-in mice carrying the Ala-to-Thr ANTXR1 mutation, confirm that ANTXR1 functions as a …
Studies of a mouse model of the Growth Retardation, Alopecia, Pseudo-anodontia and Optic Atrophy (GAPO) syndrome, caused by th …
[Tooth eruption disturbances and syndromes].
Oosterkamp BC, Ockeloen CW, Carels CE, Kuijpers-Jagtman AM. Oosterkamp BC, et al. Ned Tijdschr Tandheelkd. 2014 Apr;121(4):233-8. Ned Tijdschr Tandheelkd. 2014. PMID: 24881265 Review. Dutch.
There are 5 syndromes which involve the complete failure of several or even all teeth to erupt, specifically: cleidocranial dysplasia, Gardner's syndrome, osteopetrosis, mucopolysaccharidosis and GAPO syndrome. Some are very rare and will seldom be encountered in a …
There are 5 syndromes which involve the complete failure of several or even all teeth to erupt, specifically: cleidocranial dysplasia, Gardn …
[Ocular manifestation in GAPO syndrome. Report of the first tunisian case].
Touzri RA, Goucha S, Kriaa L, Beltaif O, Fazaa B, El Andolsi H, Kamoun MR, Ouertani A. Touzri RA, et al. J Fr Ophtalmol. 2003 Dec;26(10):1067-70. J Fr Ophtalmol. 2003. PMID: 14691402 Review. French.
GAPO syndrome is a rare autosomal recessive disorder whose main manifestations are: growth retardation, alopecia, pseudoanodontia and optic atrophy. We report here the ophthalmological findings in a 12-year-old Tunisi …
GAPO syndrome is a rare autosomal recessive disorder whose main manifestations are: growth retardation, alope …
12 results