Total: 1 |
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PMID (PMCID) | ||
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14699622 |
FEMALE | |
New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. | ||
Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB. Am J Med Genet A. 2004;124A(2):202-8. |
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She had mild mental retardation, macrocephaly, microphthalmia, right-sided morning glory optic disc anomaly, palmar and lip pits, and polysyndactyly. |