Cardiofaciocutaneous (CFC) syndrome [Online Mendelian Inheritance in Man (OMIM)#
115150] is characterized by craniofacial dysmorphism, heart malformation, ectodermal …

Uveal melanoma is the most common intraocular tumor characterized by increased
metastatic potential. The tumor develops from uveal melanocytes that, from an …

Tooth decay is a globally recognized public health challenge. Dentists have different
opinions and thoughts on how to best treat this pathology. Traditionally, the treatment …

Mutations in the human fasciculation and elongation protein zeta 1 (FEZ1) gene are found in
schizophrenia and Jacobsen syndrome patients. Here, using human cerebral organoids …

Interventions: After genetic counseling and informed consent, the couple elected to
terminate the pregnancy. Outcomes: Karyotype analysis showed that the fetal karyotype was …

Jacobsen syndrome is a rare genetic disorder associated with a terminal deletion in
chromosome 11. The clinical presentation is variable. Although immunodeficiency has been …

When we discuss the genetics of tumors, we cannot fail to remember that in the second
decade of the twentieth century, more precisely in 1914, Theodore Boveri defined for the first …

Congenital hyperammonemia (HA) due to inborn errors of metabolism is a rare condition
with a high rate of mortality. The main effects occur at the central nervous system (CNS) …

Intracranial epidermoid cysts are rare, representing almost 1% of all primary tumors and
when are located in the diploe result from entrapped ectodermal embryonic remnants …

Introduction: Congenital anomalies of digits (CAD) can occur as isolated malformations, in
combination with other malformation of the limbs, or as part of a genetic syndrome. The …