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Quoted phrase not found in phrase index: "Autosomal dominant Robinow syndrome 3"
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Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F, Avendaño A, Callea M. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. Arch Argent Pediatr. 2018. PMID: 30457727 Free article. Review. English, Spanish.
Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in primary or permanent dentition. The prevalence has been reported between 0.2 to 3%, and is more frequent in males than females. The etiol …
Supernumerary teeth represent a common human dental anomaly, defined as presence of extra teeth-more than the normal number foreseen in prim …
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.
Nagasaki K, Nishimura G, Kikuchi T, Nyuzuki H, Sasaki S, Ogawa Y, Saitoh A. Nagasaki K, et al. Am J Med Genet A. 2018 Mar;176(3):739-742. doi: 10.1002/ajmg.a.38623. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383834
This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother). Here, we present the second rep …
This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class …
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA. Mazzeu JF, et al. Am J Med Genet A. 2007 Feb 15;143(4):320-5. doi: 10.1002/ajmg.a.31592. Am J Med Genet A. 2007. PMID: 17256787
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial and genital anomalies that can be inherited in an autosomal dominant or recessive mode. ...Hemivertebrae and scoliosis were pres …
Robinow syndrome is a genetically heterogeneous condition characterized by mesomelic limb shortening associated with facial an …
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. White JJ, et al. Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924530 Free PMC article.
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. ...Remarkably, targeted sequencing identified five unrelated individuals harboring heterozygous, de novo frameshift varian …
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive …
Robinow syndrome: report of two patients and review of literature.
Butler MG, Wadlington WB. Butler MG, et al. Clin Genet. 1987 Feb;31(2):77-85. doi: 10.1111/j.1399-0004.1987.tb02773.x. Clin Genet. 1987. PMID: 3549067 Free PMC article. Review.
Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinica …
Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance r …
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N, Chennuri VS. Tamhankar PM, et al. J Clin Res Pediatr Endocrinol. 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233. J Clin Res Pediatr Endocrinol. 2014. PMID: 24932600 Free PMC article.
OBJECTIVE: Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive R …
OBJECTIVE: Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vert …