Abstract | UNLABELLED: CONCLUSIONS: 1. Mutations in LAMB2 gene should be included in the work-up of patients with CNS in the presence of eye anomalies. 2. Severe phenotypes of Pierson syndrome are associated with marked handicaps and a poor outcome.
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Authors | Aleksandra Zurowska, Iga Załuska-Leśniewska, Martin Zenker |
Journal | Przeglad lekarski
(Przegl Lek)
Vol. 63 Suppl 3
Pg. 37-9
( 2006)
ISSN: 0033-2240 [Print] Poland |
Vernacular Title | Mutacja genu LAMB2 jako przyczyna wrodzonego zespołu nerczycowego zwiazanego z anomaliami gałek ocznych i hipotonia mieśni. |
PMID | 16898484
(Publication Type: Case Reports, English Abstract, Journal Article)
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Chemical References |
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Topics |
- Eye Abnormalities
(genetics, surgery)
- Fatal Outcome
- Female
- Humans
- Infant
- Laminin
(genetics)
- Molecular Sequence Data
- Muscle Hypotonia
(congenital)
- Mutation, Missense
(genetics)
- Nephrotic Syndrome
(congenital, genetics, pathology, therapy)
- Pregnancy
- Treatment Outcome
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