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4. Conductive hearing loss and malformed low-set ears, as a possible recessive syndrome. Mengel MC; Konigsmark BW; Berlin CI; McKusick VA J Med Genet; 1969 Mar; 6(1):14-21. PubMed ID: 5771216 [No Abstract] [Full Text] [Related]
5. Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. Nevin NC; Thomas PS; Calvert J; Reid MM Am J Med Genet; 1982 Nov; 13(3):325-32. PubMed ID: 7180877 [No Abstract] [Full Text] [Related]
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7. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Alsmadi O; Meyer BF; Alkuraya F; Wakil S; Alkayal F; Al-Saud H; Ramzan K; Al-Sayed M Eur J Hum Genet; 2009 Jan; 17(1):14-21. PubMed ID: 18701883 [TBL] [Abstract][Full Text] [Related]
8. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. Qazi QH; Nangia BS J Pediatr; 1984 Mar; 104(3):391-4. PubMed ID: 6707793 [TBL] [Abstract][Full Text] [Related]
9. Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome? Schaap C; Taylor D; Baraitser M Clin Dysmorphol; 1995 Oct; 4(4):283-8. PubMed ID: 8574417 [TBL] [Abstract][Full Text] [Related]
10. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Nance WE; Sweeney A Birth Defects Orig Artic Ser; 1971 Mar; 07(4):70-2. PubMed ID: 5173352 [TBL] [Abstract][Full Text] [Related]
11. Familial microtia with meatal atresia and conductive deafness in five generations. Gupta A; Patton MA Am J Med Genet; 1995 Nov; 59(2):238-41. PubMed ID: 8588593 [TBL] [Abstract][Full Text] [Related]
12. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Tranebjaerg L; Schwartz C; Eriksen H; Andreasson S; Ponjavic V; Dahl A; Stevenson RE; May M; Arena F; Barker D J Med Genet; 1995 Apr; 32(4):257-63. PubMed ID: 7643352 [TBL] [Abstract][Full Text] [Related]
14. Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. Perniola T; Krajewska G; Carnevale F; Lospalluti M J Inherit Metab Dis; 1980; 3(2):49-53. PubMed ID: 6777601 [TBL] [Abstract][Full Text] [Related]
15. A new autosomal recessive syndrome of pachygyria. Straussberg R; Gross S; Amir J; Gadoth N Clin Genet; 1996 Dec; 50(6):498-501. PubMed ID: 9147882 [TBL] [Abstract][Full Text] [Related]
16. Right-sided microtia and conductive hearing loss with variable expressivity in three generations. Orstavik KH; Medbø S; Mair IW Clin Genet; 1990 Aug; 38(2):117-20. PubMed ID: 2208762 [TBL] [Abstract][Full Text] [Related]
17. A new case of DOOR syndrome. Wiśniewska M; Siwińska Z; Felczak M; Wielkoszyński T; Krawczyński M; Latos-Bieleńska A J Appl Genet; 2008; 49(1):101-3. PubMed ID: 18263975 [TBL] [Abstract][Full Text] [Related]