These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Cockayne syndrome: clinical study of two patients and neuropathologic findings in one. Sugarman GI; Landing BH; Reed WB Clin Pediatr (Phila); 1977 Mar; 16(3):225-32. PubMed ID: 837626 [No Abstract] [Full Text] [Related]
4. Prepubertal XX male with profound physical and mental deficiency, retinitis pigmentosa and multiple congenital anomalies. Pescia G; Spahr A; Genton N; Juillard E Helv Paediatr Acta; 1978 Apr; 33(1):63-72. PubMed ID: 566736 [TBL] [Abstract][Full Text] [Related]
5. A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities. Buntinx IM; Lormans JA; Martin JJ; Dumon JE Genet Couns; 1991; 2(4):237-40. PubMed ID: 1799423 [No Abstract] [Full Text] [Related]
6. Trichomegaly, pigmentary degeneration of the retina, and growth retardation. A new syndrome originating in utero. Corby DG; Lowe RS; Haskins RC; Hebertson LM Am J Dis Child; 1971 Apr; 121(4):344-5. PubMed ID: 5550742 [No Abstract] [Full Text] [Related]
7. Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. Mégarbané A; Waked N; Chouery E; Moglabey YB; Saliba N; Mornet E; Serre JL; Slim R Am J Med Genet; 2001 Jan; 98(3):244-9. PubMed ID: 11169562 [TBL] [Abstract][Full Text] [Related]
8. Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p). Graham W; Brown SM; Shah F; Tonk VS; Kukolich MK Arch Ophthalmol; 1999 Dec; 117(12):1648-9. PubMed ID: 10604674 [No Abstract] [Full Text] [Related]
10. Ocular manifestations of Seckel syndrome. Guirgis MF; Lam BL; Howard CW Am J Ophthalmol; 2001 Oct; 132(4):596-7. PubMed ID: 11589896 [TBL] [Abstract][Full Text] [Related]
11. Anesthetic Considerations in Alström Syndrome: A Case Report. Aslam MZ; O'Meachair A; O'Donnell B A A Pract; 2021 Jul; 15(7):e01503. PubMed ID: 34283818 [TBL] [Abstract][Full Text] [Related]
12. The syndrome of lamellar cerebellar degeneration associated with retinitis pigmentosa, heterotopias, and mental deficiency, with report of a case. HAGEN PB; NOAD KB; LATHAM O Med J Aust; 1951 Feb; 1(6):217-23. PubMed ID: 14815074 [No Abstract] [Full Text] [Related]
13. [Syndrome of dystonia musculorum deformans with mental deficiency and retinitis pigmentosa]. Jezierska K; Woźniak H Neurol Neurochir Pol; 1971; 5(6):917-9. PubMed ID: 5139016 [No Abstract] [Full Text] [Related]
15. A patient with Charlie M Syndrome: Differential diagnosis of Oromandibular Limb Hypogenesis Syndromes. Jung O; Smeets R; Hanken H; Friedrich RE; Heiland M; Tagniha A; Labow B Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Jun; 160(2):310-5. PubMed ID: 27132808 [TBL] [Abstract][Full Text] [Related]
16. Ocular features of Aicardi's syndrome. Hoyt CS; Billson F; Ouvrier R; Wise G Arch Ophthalmol; 1978 Feb; 96(2):291-5. PubMed ID: 415708 [TBL] [Abstract][Full Text] [Related]
17. The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. Iannaccone A; De Propris G; Roncati S; Rispoli E; Del Porto G; Pannarale MR Ophthalmic Genet; 1997 Mar; 18(1):13-26. PubMed ID: 9134546 [TBL] [Abstract][Full Text] [Related]
18. [OLIGOPHRENIA, CONGENITAL CATARACT, RETINITIS PIGMENTOSA, CEREBELLAR ATAXIA, NEUROGENIC AMYOTROPHIA. OBSERVATIONS ON 3 FAMILIAL CASES AND COMPARISON WITH THE MARINESCO-SJOGREN'S SYNDROME]. CALVI LA Sist Nerv; 1963; 15():189-98. PubMed ID: 14073896 [No Abstract] [Full Text] [Related]