Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …

Background To review and update the syndromic and non-syndromic systemic associations
of congenital lacrimal drainage anomalies. Methods The authors performed a PubMed …

Lacrimal punctal agenesis is an extremely rare condition with an unclear genetic basis.
Here, we report a 3‐year‐old male patient harboring a hemizygous variant in glypican 4 …

Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or
KDM6A, and manifesting with multi-systemic involvement, including recognizable facial …

Background Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by
the absence or closure of the tear duct puncta, potentially linked to systemic genetic …

Objective: By summarizing the clinical characteristics and genetic variations, this study aims
to report a case of one child with type I Kabuki syndrome (KS), and to analyze the features …

AIM To investigate the variation of IGSF3 gene in three families with congenital absence of
lacrimal puncta and canaliculi, and to lay a foundation for further research on the pathogenic …

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …