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About 4 results

ALLMedicine™ Abruzzo-erickson Syndrome Center

Research & Reviews  2 results

Abruzzo-Erickson syndrome
https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome

Jun 23rd, 2016 - Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis.[1] Although the underlying cause of the condition is still being studied, it appears...

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglos...
https://doi.org/10.1111/j.1399-0004.2012.01930.x
Clinical Genetics; Pauws E, Peskett E et. al.

Jul 12th, 2012 - X-linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankylogl...

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Clinicaltrials.gov  2 results

Abruzzo-Erickson syndrome
https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome

Jun 23rd, 2016 - Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis.[1] Although the underlying cause of the condition is still being studied, it appears...

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglos...
https://doi.org/10.1111/j.1399-0004.2012.01930.x
Clinical Genetics; Pauws E, Peskett E et. al.

Jul 12th, 2012 - X-linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually involving either a complete, partial or submucous cleft palate, with or without ankylogl...

see more →