Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal
development of first and second branchial arches derivatives during embryogenesis and is …

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology,
characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral …

Background Oculo-auriculo-vertebral spectrum (OAVS) is the second most common cause
of head and neck malformations in children after orofacial clefts. OAVS is clinically …

Background COVID-19 has a wide spectrum of clinical manifestations and given its impact
on morbidity and mortality, there is an unmet medical need to discover endogenous cellular …

Oculo‐auriculo‐vertebral spectrum (OAVS) is a developmental disorder of craniofacial
morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with …

Background Epigenetics of Autism Spectrum Disorders (ASD) is still an understudied field.
The majority of the studies on the topic used an approach based on mere classification of …

The clinical diagnosis of oculo-auriculo-vertebral spectrum (OAVS) is established when
microtia is present in association with hemifacial hypoplasia (HH) and/or ocular, vertebral …

During the last decades, our knowledge about the genetic architecture of sporadic
amyotrophic lateral sclerosis (sALS) has significantly increased. However, besides the …

Abstract Background Hemifacial macrosomia (HFM, OMIM 164210) is a complex and highly
heterogeneous disease. FORKHEAD BOX I3 (FOXI3) is a susceptibility gene for HFM, and …

We reported de novo variants in specific exons of the TBX15 and ADAMTS2 genes in a
hitherto undescribed class of patients with unique craniofacial developmental defects. The …