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pro vyhledávání: '"Rachel D. Sugalski"'
Autor:
Rachel D. Sugalski, Robert Wallerstein
Publikováno v:
Clinical dysmorphology. 19(1)
MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5941fe8bedffde097911853e607af826
https://pubmed.ncbi.nlm.nih.gov/19996736
https://pubmed.ncbi.nlm.nih.gov/19996736
Publikováno v:
Clinical neurology and neurosurgery. 110(6)
We present four patients with ARX mutations and widely variant clinical presentations. Case 1, a female with a known ARX mutation has refractory infantile spasms and severe mental retardation. Case 2, a male presented with a neurodegenerative disorde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8f0ed360d862f6dfed0050cb431e78
https://pubmed.ncbi.nlm.nih.gov/18462864
https://pubmed.ncbi.nlm.nih.gov/18462864