Background Human endogenous retroviral (HERV) sequences are the remnants of ancient
retroviral infection and comprise approximately 8% of the human genome. The high …

During female mammal reproductive tract development, epithelial cells of the lower
Müllerian duct are committed to become stratified squamous epithelium of the vagina and …

There are numerous congenital syndromes that can affect the ear and temporal bone. Many
of these syndromes feature overlapping patterns of temporal bone anomalies due to similar …

Congenital anomalies of the kidney and urinary tract (CAKUT) are estimated to be
responsible for 20%–50% of congenital anomalies and are also a leading etiology of early …

Craniofacial development requires intricate cooperation between multiple transcription
factors and signaling pathways. Six1 is a critical transcription factor regulating craniofacial …

Backgound Branchiootorenal (BOR) syndrome is an autosomal dominant disorder caused
by pathogenic EYA1 variants and clinically characterized by auricular malformations with …

La sordera congénita se define como la pérdida auditiva que se presenta en el momento
del nacimiento y, por lo tanto, antes del desarrollo del habla. Es el trastorno sensorioneural …

While genes involved in the differentiation of the mechanosensory hair cells and the
neurons innervating them have been identified, genes involved in balancing their relative …

The range of pathology seen in the head and neck region is truly amazing and to a large
extent probably mirrors the complex signaling pathways and careful orchestration of events …

Enlarged vestibular aqueduct (EVA) is an inner-ear malformation associated with
sensorineural hearing impairment. Most EVAs are associated with Pendred syndrome and …