DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 06 · Dezember 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 (PDF)