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Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.
Zhang ZW, Guo X, Qi XP. Zhang ZW, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 32914730
RESULTS: All 5 patients initially presented MTC, but none had biochemically cured postoperatively. 2 also presented bilateral PHEO after adrenal-sparing surgery, 1 needed steroid replacement. Further, a total of 32 MEN 2B patients from literature were clustered with 28 ava …
RESULTS: All 5 patients initially presented MTC, but none had biochemically cured postoperatively. 2 also presented bilateral PHEO after adr …
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O. Klemetti P, et al. Clin Genet. 2017 Aug;92(2):204-207. doi: 10.1111/cge.12969. Epub 2017 Mar 19. Clin Genet. 2017. PMID: 28094436
We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA). ...Two of them …
We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP seque …
A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
Moore SW, Zaahl MG. Moore SW, et al. J Pediatr Surg. 2008 Feb;43(2):325-9. doi: 10.1016/j.jpedsurg.2007.10.021. J Pediatr Surg. 2008. PMID: 18280283
BACKGROUND: Hirschsprung's disease (HSCR) represents a complex disorder of signaling molecules, resulting from the effects of at least 9 known susceptibility genes. ...SSCP variants were validated and automated sequencing techniques performed on polymerase ch …
BACKGROUND: Hirschsprung's disease (HSCR) represents a complex disorder of signaling molecules, resulting from the effects of …
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C. Borrego S, et al. J Med Genet. 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572. J Med Genet. 2000. PMID: 10922382 Free PMC article.
BACKGROUND: Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction secondary to aganglionosis of the hindgut. ...The distributions of haplotypes between cases and contro …
BACKGROUND: Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents w …