SCOPUS 정보 검색 플랫폼

Genetic Counseling

Volumn 18, Issue 1, 2007, Pages 71-75

A new case of Martsolf syndrome

(7) Bora, E a Cankaya, T a Alpman, A a Karaca, E a Cogulu, O a Tekgul, H a Ozkinay, F a

a EGE UNIVERSITY (Turkey)

Author keywords

Martsolf syndrome

Indexed keywords

RAB PROTEIN;

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL CATARACT; GROWTH RETARDATION; HOSPITAL ADMISSION; HUMAN; HYPOGONADISM; MALE; MARTSOLF SYNDROME; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PHYSICAL PARAMETERS; SCHOOL CHILD; SHORT STATURE; WALKING DIFFICULTY;

ABNORMALITIES, MULTIPLE; BODY HEIGHT; CATARACT; CHILD; CONSANGUINITY; HUMANS; HYPOGONADISM; MALE; MENTAL RETARDATION; MICROCEPHALY; PEDIGREE; SYNDROME;

EID: 34247531277 PISSN: 10158146 EISSN: None Source Type: Journal
DOI: None Document Type: Article

Times cited : (8)

References (8)

1
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- Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
- ALAGIANIS I.A., MORGAN N.V., MONE M., JOHNSON C.A., ROSSER E., HENNEKAM R.C., ADAMS G., TREMBATH R.C., PILZ D.T., STOODLEY N., MOORE A.T., WILSON S., MAHER E.R.: Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am.J. Hum. Genet., 2006, 78, 702-707.
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2
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- Endocrine studies in patients with advanced hypopadias
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- (1984) J. Urol , vol.131 , pp. 310-314
- ALLEN, T.D.¹ GRIFFIN, J.E.²

3
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- Microcephaly, mental retardation, cataracts and hypogonadism in sibs: Martsolf's syndrome
- HARBORD M.G., BARAITSER M., WILSON J.: Microcephaly, mental retardation, cataracts and hypogonadism in sibs: Martsolf's syndrome J. Med. Genet., 1989, 26, 397-406.
- (1989) J. Med. Genet , vol.26 , pp. 397-406
- HARBORD, M.G.¹ BARAITSER, M.² WILSON, J.³

4
- 0023897892
- Martsolf's syndrome in a brother and sister: Clinical features and pattern of inheritance
- HENNEKAM R.C.M., VAN DE MEEBERG A.G., VAN DOORNE J.M., DIJKSTRA P.F., BIJLSMA J.B.: Martsolf's syndrome in a brother and sister: clinical features and pattern of inheritance. Eur. J. Pediatr., 1988, 147, 539-543.
- (1988) Eur. J. Pediatr , vol.147 , pp. 539-543
- HENNEKAM, R.C.M.¹ VAN DE MEEBERG, A.G.² VAN DOORNE, J.M.³ DIJKSTRA, P.F.⁴ BIJLSMA, J.B.⁵

5
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- Variability in Smith-Lemli-Opitz syndrome: Overlap with the Meckel syndrome
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6
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- Severe mental retardation, cataracts, short stature and primary hypogonadism in two brothers
- MARTSOLF J.T., HUNTER A.G.W., HAWORTH J.C.: Severe mental retardation, cataracts, short stature and primary hypogonadism in two brothers. Am. J. Med. Genet., 1978, 1, 291-299.
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- MARTSOLF, J.T.¹ HUNTER, A.G.W.² HAWORTH, J.C.³

7
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- Two brothers with Martsolf's syndrome
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- SANCHEZ, J.M.¹ BARREIRO, C.² FREILIJ, H.³

8
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- Martsolf's syndrome in a non-Jewish boy
- STRISCIUGLIO P., COSTABILE M., ESPOSITO M., DI MAIO S.: Martsolf's syndrome in a non-Jewish boy. J. Med. Genet., 1988, 25, 267-269.
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- STRISCIUGLIO, P.¹ COSTABILE, M.² ESPOSITO, M.³ DI MAIO, S.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.