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Quoted phrase not found in phrase index: "COACH syndrome 2"
Page 1
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
The mean age of ESRD onset in the non-NPHP1 group was lower than that in the NPHP1 group (6.21.4 years, p<0.001), especially for patients carrying NPHP3 mutations (3.11.2 years), showing a heterogeneous phenotype characterised by Bardet-Biedl syndrome (12.5%, n=5), Joub …
The mean age of ESRD onset in the non-NPHP1 group was lower than that in the NPHP1 group (6.21.4 years, p<0.001), especially for patients …
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Doherty D, et al. J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1. J Med Genet. 2010. PMID: 19574260 Free PMC article.
OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepati …
OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive …
Renal insufficiency is a component of COACH syndrome.
Kumar S, Rankin R. Kumar S, et al. Am J Med Genet. 1996 Jan 11;61(2):122-6. doi: 10.1002/(SICI)1096-8628(19960111)61:2<122::AID-AJMG3>3.0.CO;2-Z. Am J Med Genet. 1996. PMID: 8669436
COACH syndrome is a newly recognized condition. So far, five cases have been reported from three sibships. ...We suggest that renal insufficiency should be considered a common manifestation of COACH syndrome....
COACH syndrome is a newly recognized condition. So far, five cases have been reported from three sibships. ...We suggest that …
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM Jr, Maria BL, Barkovich AJ, Dobyns WB. Gleeson JG, et al. Am J Med Genet A. 2004 Mar 1;125A(2):125-34; discussion 117. doi: 10.1002/ajmg.a.20437. Am J Med Genet A. 2004. PMID: 14981712
Here we present evidence that the MTS is seen together with polymicrogyria, Varadi-Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. We also present a new patient with COACH syndrome plus the MTS. We propose …
Here we present evidence that the MTS is seen together with polymicrogyria, Varadi-Papp syndrome (Orofaciodigital VI (OFD VI)), and a new sy …