SCOPUS 정보 검색 플랫폼

Clinical Dysmorphology

Volumn 7, Issue 2, 1998, Pages 135-138

Rapadilino syndrome - A non-Finnish case

(4) Kant, S G a,c Baraitser, M b Milla, P J c Winter, R M a

a UNIVERSITY COLLEGE LONDON (United Kingdom)

b Hospital for Sick Children (United Kingdom)

c LEIDEN UNIVERSITY MEDICAL CENTER (Netherlands)

Author keywords

Patellar aplasia; Radial aplasia; RAPADILINO; Short stature

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLEFT PALATE; CLINICAL EXAMINATION; DIARRHEA; HUMAN; JOINT DISLOCATION; MALE; MULTIPLE MALFORMATION SYNDROME; POIKILODERMA; PRIORITY JOURNAL; RADIUS APLASIA; RASH; ROTHMUND THOMSON SYNDROME; SHORT STATURE; SYNDROME;

ABNORMALITIES, MULTIPLE; DIARRHEA; DISLOCATIONS; FOOD HYPERSENSITIVITY; GROWTH DISORDERS; HUMANS; INFANT; INTELLIGENCE; LIMB DEFORMITIES, CONGENITAL; MALE; NOSE; PALATE; PATELLA; RADIUS; SYNDROME; THUMB;

EID: 0031919922 PISSN: 09628827 EISSN: None Source Type: Journal
DOI: 10.1097/00019605-199804000-00011 Document Type: Article

Times cited : (14)

References (9)

1
- 0020351041
- Spectrum of anomalies in Fanconi anaemia
- Glanz A, Fraser FC (1982). Spectrum of anomalies in Fanconi anaemia. J Med Genet 19:412-416.
- (1982) J Med Genet , vol.19 , pp. 412-416
- Glanz, A.¹ Fraser, F.C.²

2
- 0023158893
- Syndrome of the month. Thrombocytopenia and absent radius (TAR) syndrome
- Hall JG (1987). Syndrome of the month. Thrombocytopenia and absent radius (TAR) syndrome. J A fed Genet 24: 79-83.
- (1987) J a Fed Genet , vol.24 , pp. 79-83
- Hall, J.G.¹

3
- 0024473590
- RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations
- Kääriäinen H, Ryöppy S, Norio R (1989). RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. AmJMed Genêt 33:346-351.
- (1989) AmJMed Genêt , vol.33 , pp. 346-351
- Kääriäinen, H.¹ Ryöppy, S.² Norio, R.³

4
- 0027296797
- Syndrome of the month. Nager acrofacial dysostosis
- McDonald MT, Gorski JL (1993). Syndrome of the month. Nager acrofacial dysostosis. J Med Genêt 30:779-782.
- (1993) J Med Genêt , vol.30 , pp. 779-782
- McDonald, M.T.¹ Gorski, J.L.²

5
- 0022637813
- The Aase syndrome. Case report and review of the literature
- Muis N, Beemer FA, Van Dijken P, Klep-de Pater JM (1986). The Aase syndrome. Case report and review of the literature. EurJ Pediatr 145:153-157.
- (1986) EurJ Pediatr , vol.145 , pp. 153-157
- Muis, N.¹ Beemer, F.A.² Van Dijken, P.³ Klep-de Pater, J.M.⁴

6
- 0029940134
- Holt-Oram syndrome: A clinical genetic study
- Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID (1996). Holt-Oram syndrome: a clinical genetic study. J Med Genet 33:300-307.
- (1996) J Med Genet , vol.33 , pp. 300-307
- Newbury-Ecob, R.A.¹ Leanage, R.² Raeburn, J.A.³ Young, I.D.⁴

7
- 0028342509
- Instability of lymphocyte chromosomes in a girl with Rothmund-Thompson syndrome
- Orstavik K.H, McFadden N, Hagelsteen J, Ormerod E, van der Hagen CB (1994). Instability of lymphocyte chromosomes in a girl with Rothmund-Thompson syndrome. J Med Genet 31:570-572.
- (1994) J Med Genet , vol.31 , pp. 570-572
- Orstavik, K.H.¹ McFadden, N.² Hagelsteen, J.³ Ormerod, E.⁴ Van Der Hagen, C.B.⁵

8
- 0030002181
- VACTERL association, epidemiologic definition and delineation
- Rittler M, Paz JE, Castilla EE (1996). VACTERL association, epidemiologic definition and delineation. Am J Med Genêt 63:529-536.
- (1996) Am J Med Genêt , vol.63 , pp. 529-536
- Rittler, M.¹ Paz, J.E.² Castilla, E.E.³

9
- 0027102826
- RAPADILINO syndrome
- Vargas FR, Cabrai de Almeida JC, Llerena JC, Reis DF (1992). RAPADILINO syndrome. Am J Med Genet 44: 716-719.
- (1992) Am J Med Genet , vol.44 , pp. 716-719
- Vargas, F.R.¹ De Cabrai Almeida, J.C.² Llerena, J.C.³ Reis, D.F.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.