Search Results - "Hedge, Madhuri R."

Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS by Mendoza-Londono, Roberto, Lammer, Edward, Watson, Rosemarie, Harper, John, Hatamochi, Atsushi, Hatamochi-Hayashi, Saori, Napierala, Dobrawa, Hermanns, Pia, Collins, Sinead, Roa, Benjamin B., Hedge, Madhuri R., Wakui, Keiko, Nguyen, Diep, Stockton, David W., Lee, Brendan

“…We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed…”
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Clinical & genetic analysis of four patients with distal upper limb spinal muscular atrophy by Hegde, M R, Chong, B, Stevenson, C, Laing, N G, Khadilkar, S, Love, D R

“…Distal upper limb spinal muscular atrophy (SMA) is an uncommon segmental variant of SMA. The condition is usually sporadic, affects males more often than…”
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