DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 04 · Volume 06 · December 2017 DOI: 10.1055/s-007-35271

Review Article

205
Chouiter, Leila; Nadifi, Sellama: Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Original Article

215
Kammoun, Molka; Slimani, Wafa; Hannachi, Hanene; Bibi, Mohamed; Saad, Ali; Mougou-Zerelli, Soumaya: Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature
222
Singh, Mable Misha; Kumar, Ravindra; Tewari, Satyendra; Agarwal, Sarita: Determining Nt-proBNP Levels with Diastolic Dysfunction in Thalassemia Major Patients
227
Novikova, Irina; Sen, Paushpala; Manzardo, Ann; Butler, Merlin G.: Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review
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
Bozdogan, Sevcan Tug; Bisgin, Atil: A Rare Double Aneuploidy Case (Down–Klinefelter)
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
252
Khedr, Salwa; Jazaerly, Tarek; Kostadinov, Stefan: Placental Teratoma, Omphalomesenteric Duct Remnant, or Intestinal Organoid (Enteroid) Differentiation: A Diagnostic Dilemma
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
Supplemental Table S1