SCOPUS 정보 검색 플랫폼

Volumn 93, Issue 1, 2009, Pages 127-128

Cataracts in three children with a newly recognised neurocutaneous malformation phenotype with "cutis tricolor"

(9) Ruggieri, M a,b Iannetti, F c Polizzi, A b Puzzo, L d Di Pietro, M d Caltabiano, R d Iannetti, L e Magro, G d Iannetti, P e

a INSTITUTE OF NEUROLOGICAL SCIENCES (Italy)

b ISTITUTO SUPERIORE DI SANITÀ (Italy)

c S Giovanni Addolorata Calvary Hosp (Italy)

d UNIVERSITY OF CATANIA (Italy)

e SAPIENZA UNIVERSITY OF ROME (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CATARACT; CELL CLONE; CHILD; CLINICAL ARTICLE; CUTIS TRICOLOR; DISEASE ASSOCIATION; EPILEPSY; FACE DYSMORPHIA; FEMALE; HUMAN; LETTER; MALE; MENTAL DEFICIENCY; MOLECULAR CLONING; MUSCLE HYPOTONIA; PHAKOMATOSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CATARACT; CHILD; FEMALE; FOLLOW-UP STUDIES; HUMANS; INCIDENTAL FINDINGS; MALE; NEUROCUTANEOUS SYNDROMES; PHENOTYPE; PIGMENTATION DISORDERS;

EID: 58349083657 PISSN: 00071161 EISSN: 14682079 Source Type: Journal
DOI: 10.1136/bjo.2008.140749 Document Type: Letter

Times cited : (11)

References (6)

1
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- Cutis tricolor: Congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?
- Happle R, Barbi G, Eckert D, et al. "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? J Med Genet 1997;34:676-8.
- (1997) J Med Genet , vol.34 , pp. 676-678
- Happle, R.¹ Barbi, G.² Eckert, D.³

2
- 0033818003
- Cutis tricolor: Congenital hyper- and hypopigmented lesions in a background of normal skin, with and without associated systemic features: further expansion of the phenotype
- Ruggieri M. "Cutis tricolor": congenital hyper- and hypopigmented lesions in a background of normal skin, with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr 2000;159:745-9
- (2000) Eur J Pediatr , vol.159 , pp. 745-749
- Ruggieri, M.¹

3
- 0041821833
- Ruggieri M, lannetti P, Pavone L. Delineation of a newly recognised neurocutaneous malformation syndrome with cutis tricolor. Am J Med Genet 2003;120A:110-16.
- Ruggieri M, lannetti P, Pavone L. Delineation of a newly recognised neurocutaneous malformation syndrome with "cutis tricolor." Am J Med Genet 2003;120A:110-16.

4
- 58349118398
- Cutis tricolor (Ruggieri-Happle syndrome)
- Ruggieri M, Pascual-Castroviejo I, Di Rocco C. eds, Vienna: Springer Verlag
- Ruggieri M, Roggini M, Schepis C, et al. Cutis tricolor (Ruggieri-Happle syndrome). In: Ruggieri M, Pascual-Castroviejo I, Di Rocco C. eds. Neurocutaneous disorders: phakomatoses and hamartoneoplastic syndromes. Vienna: Springer Verlag, 2008:461-72
- (2008) Neurocutaneous disorders: Phakomatoses and hamartoneoplastic syndromes , pp. 461-472
- Ruggieri, M.¹ Roggini, M.² Schepis, C.³

5
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- Lambert SR. Cataract and persistent hyperplastic primary vitreous (PHPV). In: Taylor D, Hoyt CS, eds. Pediatric ophthalmology and strabismus. 3rd edn. Edinburgh: Elsevier/Saunders, 2005:441-57
- Lambert SR. Cataract and persistent hyperplastic primary vitreous (PHPV). In: Taylor D, Hoyt CS, eds. Pediatric ophthalmology and strabismus. 3rd edn. Edinburgh: Elsevier/Saunders, 2005:441-57

6
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- Embryology of the neural crest: Its inductive role in the neurocutaneous syndromes
- Samat HB, Flores-Sarnat L. Embryology of the neural crest: its inductive role in the neurocutaneous syndromes. J Child Neurol 2005;20:637-43
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- Samat, H.B.¹ Flores-Sarnat, L.²

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.