L773:0736 8046 OR L773:1525 1470
Sökning: L773:0736 8046 OR L773:1525 1470 > Piebaldism in a men...
LIBRIS Formathandbok (Information om MARC21)
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03016naa a2200517 4500 | |
| 001 | oai:lup.lub.lu.se:f636c1a3-8f53-4774-82cf-95cc97c92131 | |
| 003 | SwePub | |
| 008 | 161125s1993 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/f636c1a3-8f53-4774-82cf-95cc97c921312 URI |
| 024 | 7 | a https://doi.org/10.1111/j.1525-1470.1993.tb00367.x2 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Sijmons, R.H.u Erasmus University Rotterdam4 aut |
| 245 | 1 0 | a Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4 |
| 264 | 1 | b Wiley,c 1993 |
| 520 | a A 4-year-old mentally retarded girl had congenital depigmentations of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle. Cytogenetic investigations revealed deletion of chromosome 4 for the long arm segment q12-q21. The typical depigmentations, reported in four other patients with a similar chromosomal deletion, correspond with those in the autosomal dominant piebald trait. Mutations in the Kit protooncogene (mapped to the chromosome (4q11-4q12 region) have been found in patients affected with this dominant disorder. Piebaldism in children with developmental delay and dysmorphic features should alert the physician to the possibility of a deletion of the long arm of chromosome 4. | |
| 653 | a article | |
| 653 | a autosomal dominant disorder | |
| 653 | a case report | |
| 653 | a child | |
| 653 | a chromosome 4 | |
| 653 | a chromosome deletion | |
| 653 | a chromosome Q band | |
| 653 | a clinical feature | |
| 653 | a cytogenetics | |
| 653 | a depigmentation | |
| 653 | a face dysmorphia | |
| 653 | a female | |
| 653 | a genetic disorder | |
| 653 | a human | |
| 653 | a mental deficiency | |
| 653 | a piebaldism | |
| 653 | a Paediatric | |
| 700 | 1 | a Kristoffersson, U.u Erasmus University Rotterdam4 aut0 (Swepub:lu)kgen-ukr |
| 700 | 1 | a Tuerlings, J.H.A.M.u Erasmus University Rotterdam4 aut |
| 700 | 1 | a Ljung, R.u Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)pedi-rlj |
| 700 | 1 | a Dijkhuis- Stoffelsma, R.u Erasmus University Rotterdam4 aut |
| 700 | 1 | a Breed, A.S.P.M.u Erasmus University Rotterdam4 aut |
| 710 | 2 | a Erasmus University Rotterdamb Pediatrik, Lund4 org |
| 773 | 0 | t Pediatric Dermatologyd : Wileyg 10:3, s. 235-239q 10:3<235-239x 0736-8046x 1525-1470 |
| 856 | 4 | u http://dx.doi.org/10.1111/j.1525-1470.1993.tb00367.xy FULLTEXT |
| 856 | 4 8 | u https://lup.lub.lu.se/record/f636c1a3-8f53-4774-82cf-95cc97c92131 |
| 856 | 4 8 | u https://doi.org/10.1111/j.1525-1470.1993.tb00367.x |
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- Sijmons, R.H.
- Kristoffersson, ...
- Tuerlings, J.H.A ...
- Ljung, R.
- Dijkhuis- Stoffe ...
- Breed, A.S.P.M.
- Artiklar i publikationen
- Pediatric Dermat ...
- Av lärosätet
- Lunds universitet
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