Total: 1 |
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PMID (PMCID) | ||
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25118028 |
MIXED_SAMPLE | Infant |
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. | ||
Klaassens M, Morrogh D, Rosser EM, Jaffer F, Vreeburg M, Bok LA, Segboer T, van Belzen M, Quinlivan RM, Kumar A, Hurst JA, Scott RH. Eur J Hum Genet. 2015;23(5):610-5. |
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There is overlap of the facial phenotype with NSD1-positive Sotos syndrome in some cases including a prominent forehead, high anterior hairline, downslanting palpebral fissures and prominent chin. |