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4. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Sommer A, Young-Wee T, Frye T. Am J Med Genet; 1983 May; 15(1):71-7. PubMed ID: 6859126 [Abstract] [Full Text] [Related]
6. New syndrome or severe expression of Gordon syndrome? A case report. Courtens W, Perlmutter N, Dan B, Vamos E. Clin Dysmorphol; 1997 Jan; 6(1):39-44. PubMed ID: 9018417 [Abstract] [Full Text] [Related]
7. Post-natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: a new syndrome? Mégarbané A, Rassi S, Estephan F, Kouba-Hreich E. Am J Med Genet A; 2004 Feb 15; 125A(1):57-60. PubMed ID: 14755467 [Abstract] [Full Text] [Related]
8. O--short stature with abnormalities of the cranium and limbs. Jorgenson RJ. Birth Defects Orig Artic Ser; 1974 Feb 15; 10(5):249-51. PubMed ID: 4469995 [No Abstract] [Full Text] [Related]
17. A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay. Thiel CT, Dörr HG, Trautmann U, Hoyer J, Hofmann K, Kraus C, Ekici AB, Reis A, Rauch A. Eur J Med Genet; 2008 Jun 01; 51(4):362-7. PubMed ID: 18434272 [Abstract] [Full Text] [Related]
18. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, Lalani SR, Roeder E, Enciso V, Braddock S, Buchholz J, Vacha S, Chinault AC, Cheung SW, Bacino CA. Clin Genet; 2007 Oct 01; 72(4):329-38. PubMed ID: 17850629 [Abstract] [Full Text] [Related]
19. [Robinow's syndrome associated with deafness]. Samoud A, Menif K, Boulaares M, Ben Dridi MF. Arch Fr Pediatr; 1993 Dec 01; 50(10):897-9. PubMed ID: 8053771 [Abstract] [Full Text] [Related]
20. Familial bilateral blepharoptosis and subvalvular aortic stenosis. Bazopoulou-Kyrkanidou E, Neou P, Bartsocas CS, Kyrkanides S, Fanourakis I. Genet Couns; 1995 Dec 01; 6(3):227-32. PubMed ID: 8588851 [Abstract] [Full Text] [Related] Page: [Next] [New Search]