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Albinism and Developmental Delay: The Need to Test for 15q11–q13 deletion
We report a 17-month-old African female with cutaneous and ophthalmologic features of oculocutaneous albinism type 2 as well as microcephaly, absent speech, tremulous movements. P gene mutations within the Angelman/Prader-Willi syndrome critical region at 15q11–q13 cause oculocutaneous albinism type...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2007
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2128718/ https://ncbi.nlm.nih.gov/pubmed/17903679 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2007.06.024 |
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