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Journal of Pediatric Genetics


Journal of Pediatric Genetics


Issue 04 ·


Volume 06 ·


December 2017


DOI: 10.1055/s-007-35271



Review Article



Original Article



222


Singh, Mable Misha;

Kumar, Ravindra;

Tewari, Satyendra;

Agarwal, Sarita:


Determining Nt-proBNP Levels with Diastolic Dysfunction in Thalassemia Major Patients




234


Lu, Yongping;

Chong, Pin Fee;

Kira, Ryutaro;

Seto, Toshiyuki;

Ondo, Yumiko;

Shimojima, Keiko;

Yamamoto, Toshiyuki:


Mutations in

NSD1

and

NFIX

in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome



Case Report


238


Mostafa, Mostafa Ibrahim;

Abouzaid, Maha Rashed;

Thomas, Manal Micheal;

El-Kamah, Ghada Yousef:


Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon–Lefèvre Syndrome?



241



244


Yesodharan, Dhanya;

Sudarsanan, Bindu;

Jojo, Annie;

Abraham, Mohan;

Bhavani, Nisha;

Mathews, Hima;

Nampoothiri, Sheela:


Plexiform Neurofibroma of Clitoris



247


Kuthiroly, Shwetha;

Yesodharan, Dhanya;

Ghosh, Aneesh;

White, Kenneth E.;

Nampoothiri, Sheela:


Osteoglophonic Dysplasia: Phenotypic and Radiological Clues




258


Poterico, Julio A.;

Vásquez, Flor;

Chávez-Pastor, Miguel;

Trubnykova, Milana;

Chavesta, Félix;

Chirinos, Jenny;

Salcedo, Nancy;

Mena, Rosmery;

Cubas, Sulema;

González, Rocío;

Alvariño, Rossana;

Abarca-Barriga, Hugo:


A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria