Facilitating the molecular diagnosis of rare genetic disorders through facial phenotypic scores
With recent advances in computer vision, many applications based on artificial intelligence
have been developed to facilitate the diagnosis of rare genetic disorders through the …
have been developed to facilitate the diagnosis of rare genetic disorders through the …
Landscape of Constitutional SOX4 Variation in Human Disorders
M Grippa, C Graziano - Genes, 2024 - mdpi.com
SOX proteins are transcription factors which play a role in regulating the development of
progenitor cells and tissue differentiation. Twenty members are known, clustered in eight …
progenitor cells and tissue differentiation. Twenty members are known, clustered in eight …
Next‐generation phenotyping in Nigerian children with Cornelia de Lange Syndrome
Next‐generation phenotyping (NGP) can be used to compute the similarity of dysmorphic
patients to known syndromic diseases. So far, the technology has been evaluated in variant …
patients to known syndromic diseases. So far, the technology has been evaluated in variant …
GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases
The most important factor that complicates the work of dysmorphologists is the significant
phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that …
phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that …