DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Ausgabe 04 · Volume 09 · Dezember 2020 DOI: 10.1055/s-010-49031

Original Article

  • 221
    Tangshewinsirikul, Chayada; Dulyaphat, Wirada; Tim-Aroon, Thipwimol; Parinayok, Rachanee; Chareonsirisuthigul, Takol; Korkiatsakul, Veerawat; Waisayarat, Jariya; Sirisreetreerux, Pokket; Tingthanatikul, Yada; Wattanasirichaigoon, Duangrurdee:

    Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

  • 227
    Diniz, Bruna Lixinski; Santos, Andressa Schneiders; Glaeser, Andressa Barreto; Guaraná, Bruna Baierle; Lorea, Cláudia Fernandes; Josahkian, Juliana Alves; Huber, Janaína; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola:

    Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

  • 235
    Ganetsos, Athena; Farrelly, Ellyn; Magoulas, Pilar; Stevenson, David A.:

    Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences

    • Case Report

  • 243
    Güzel Erdal, Gülbahar; Balkan, Mahmut:

    Turner Syndrome with Isochromosome Xq

  • 246
    Alfurayh, Nuha; Alsaif, Fahad; Alballa, Nouf; Zeitouni, Leena; Ramzan, Khushnooda; Imtiaz, Faiqa; Alakeel, Abdullah:

    LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

  • 252
    Mir, Ali; Qahtani, Mohammed; Bashir, Shahid:

    GRIN2A-Related Severe Epileptic Encephalopathy Treated with Memantine: An Example of Precision Medicine

  • 258
    Vendramini-Pittoli, Siulan; Candido-Souza, Rosana Maria; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria; Kokitsu-Nakata, Nancy Mizue; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho; FitzPatrick, David R.; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio:

    Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

  • 263
    Deconte, Desirée; Kreusch, Tulia Cristina; Salvaro, Bruna Pavan; Perin, Wagner Fernando; Ferreira, Maria Angélica Tosi; Kopacek, Cristiane; da Rosa, Ernani Bohrer; Heringer, Jane Iândora; Ligabue-Braun, Rodrigo; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado; Fiegenbaum, Marilu:

    Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

  • 270
    Abarca-Barriga, Hugo H.; Trubnykova, Milana; Chavesta-Velásquez, Félix; Barletta-Carrillo, Claudia; Ordoñez-Linares, Marco; Rondón-Abuhadba, Andrea:

    Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

  • 279
    Akkus, Nejmiye; Kilic, Betul; Cubuk, Pelin Ozyavuz:

    Smith–Magenis Syndrome: Clues in the Clinic

  • 285
    Bekdas, Mervan; Can, Guray; Eroz, Recep; Duzcu, Selma Erdogan:

    Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

  • 289
    You, Jong In; Bang, Seul Ki; Yu, Seung-Young; Jin, Kyung Hyun:

    Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit

  • 293
    Al Shibli, Naema; Al-Maawali, Almundher; Elmanzalawy, Alaa; Al-Nabhani, Maryam; Koul, Roshan; Gabr, Ahlam; Al Murshedi, Fathiya:

    A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

  • 296
    Thakur, Seema; Kumar, Manisha; Malhotra, Supriya; Paliwal, Preeti; Thareja, Vandana; Sahi, Gaurika:

    Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease