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Results 1 - 10 of 22 for Gordon syndrome
  1. Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems. One of the key features of ... Some never undergo puberty. While some people with Gordon Holmes syndrome seem to have normal puberty, they develop other ...
  2. ... Familial hypertensive hyperkalemia FHHt Gordon hyperkalemia-hypertension syndrome Gordon's syndrome PHAII Pseudohypoaldosteronism type II Genetic Testing Registry: Pseudohypoaldosteronism ...
  3. ... Zuchner S. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. ... esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. J Clin Endocrinol Metab. 2014 Oct;99(10): ...
  4. ... Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with ...
  5. ... 46. doi: 10.2741/216. Citation on PubMed Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [updated 2023 Oct 19]. In: ...
  6. ... Rare Disorders (NORD) AURICULOCONDYLAR SYNDROME 1; ARCND1 AURICULOCONDYLAR SYNDROME 2A; ARCND2A PubMed Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson ...
  7. ... Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused ...
  8. ... Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. ...
  9. ... AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le ... in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4;92( ...
  10. ... RM, Passos-Bueno MR, Lyonnet S, Amiel J, Gordon CT. A review of craniofacial ... cardiac defect: Burn-McKeown syndrome? Clin Dysmorphol. 1999 Apr;8(2):143-5. ...
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