Total: 1 |
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PMID (PMCID) | ||
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24555185 |
MALE | Infant |
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. | ||
Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Pediatr Dermatol. 2014;31(1):e1-5. |
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Some of these conditions, including PMM2-CDG, frequently present with recognizable skin abnormalities such as abnormal fat distribution, skin wrinkling, or peau d'orange, whereas others, such as COG7-CDG and ATP6V0A2-CDG, have been described in association with cutis laxa: wrinkled, inelastic, and sagging skin. |