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

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

Farrelly, Ellyn;

Magoulas, Pilar;

Stevenson, David A.:


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

Balkan, Mahmut:


Turner Syndrome with Isochromosome Xq

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

Qahtani, Mohammed;

Bashir, Shahid:



GRIN2A

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

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

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

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

Kilic, Betul;

Cubuk, Pelin Ozyavuz:


Smith–Magenis Syndrome: Clues in the Clinic

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

Bang, Seul Ki;

Yu, Seung-Young;

Jin, Kyung Hyun:


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

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

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