Transcription factors operate in developmental processes to mediate inductive events and
cell competence, and perturbation of their function or regulation can dramatically affect …

Fine–Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as
brachycephaly, deafness, cataract, microstomia, and impaired intellectual development …

The Fine‐Lubinsky syndrome (FLS) is a rare congenital disorder. Heart failure has not been
described in young adults with this condition. Here, we report the first case of heart failure in …

Further clinical delineation of Fine-Lubinsky syndrome Further clinical delineation of Fine-Lubinsky
syndrome Am J Med Genet A. 2009 May;149A(5):1070-5. doi: 10.1002/ajmg.a.32780. Authors …

Microstomia is a term used to describe a small oral aperture (Stedman, 1976). Trauma,
ingestion of caustic substances, electrical and thermal burns of perioral tissues and …

Whole genome sequencing (WGS) is increasingly used to diagnose rare genetic diseases
(RGD). WGS data contains approximately 5,000,000 variants per patient, out of which often …

While common syndromic synostoses such as Apert, Crouzon, or Pfieffer syndromes, are
well-described, Fine-Lubinsky syndrome remains relatively unknown and rarely reported. In …