Journal of Pediatric Genetics

2013_04-_173-207.html

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Journal of Pediatric Genetics


Journal of Pediatric Genetics


Issue 04 ·


Volume 02 ·


December 2013


DOI: 10.1055/s-005-29731




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



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



191


Lamichhane, Dronacharya:


New AP4B1 mutation in an African-American child associated with intellectual disability



Case Report


197


Udayakumar, Achandira M.;

Al-Kindy, Adila:


Constitutional trisomy 8 mosaicism syndrome: case report and review



203


Westberry, David;

Pugh, Linda:


Zellweger syndrome: an older child with progressive foot deformity


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