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
Case Report
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