Journal of Pediatric Genetics

Issue 04 · December 2013

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173
Vendramini-Pittoli, Siulan; Guion-Almeida, Maria L.; Richieri-Costa, Antonio; Santos, Juliana M.; Kokitsu-Nakata, Nancy M.: Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

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181
Chida, Ayako; Shintani, Masaki; Wakamatsu, Hajime; Tsutsumi, Yoshiyuki; Iizuka, Yuo; Kawaguchi, Nanako; Furutani, Yoshiyuki; Inai, Kei; Nonoyama, Shigeaki; Nakanishi, Toshio: ACVRL1 gene variant in a patient with vein of Galen aneurysmal malformation

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191
Lamichhane, Dronacharya: New AP4B1 mutation in an African-American child associated with intellectual disability

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Case Report
197
Udayakumar, Achandira M.; Al-Kindy, Adila: Constitutional trisomy 8 mosaicism syndrome: case report and review

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203
Westberry, David; Pugh, Linda: Zellweger syndrome: an older child with progressive foot deformity

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