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About 18 results

ALLMedicine™ Aarskog Syndrome Center

Research & Reviews  9 results

Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Lite...
https://doi.org/10.1016/j.joms.2018.03.027
Journal of Oral and Maxillofacial Surgery : Official Jour... Depeyre A, Schlund M et. al.

Apr 24th, 2018 - Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported ...

A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C a...
https://doi.org/10.1002/ajmg.a.36752
American Journal of Medical Genetics. Part A; De Wolf V, Crepel A et. al.

Sep 26th, 2014 - We present a male patient with sporadic Aarskog syndrome, cleft palate, mild intellectual disability, and autism spectrum disorder (ASD). A submicroscopic discontiguous deletion was detected on chromosome Xp11.2 encompassing FGD1, FAM120C, and PHF...

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe cranio...
https://doi.org/10.1007/s00431-014-2317-3
European Journal of Pediatrics; Völter C, Martínez R et. al.

Apr 28th, 2014 - Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene. Patients typically show distinctive skeletal and genital developmental abnormalities, ...

MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 i...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204846
The Journal of Clinical Investigation; Zou W, Greenblatt MB et. al.

Oct 3rd, 2011 - Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder that affects multiple skeletal structures. FGD1 encodes a guanine nucleotide exchange fact...

Aarskog syndrome
https://rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome

Sep 6th, 2011 - Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutatio...

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Clinicaltrials.gov  9 results

Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Lite...
https://doi.org/10.1016/j.joms.2018.03.027
Journal of Oral and Maxillofacial Surgery : Official Jour... Depeyre A, Schlund M et. al.

Apr 24th, 2018 - Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported ...

A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C a...
https://doi.org/10.1002/ajmg.a.36752
American Journal of Medical Genetics. Part A; De Wolf V, Crepel A et. al.

Sep 26th, 2014 - We present a male patient with sporadic Aarskog syndrome, cleft palate, mild intellectual disability, and autism spectrum disorder (ASD). A submicroscopic discontiguous deletion was detected on chromosome Xp11.2 encompassing FGD1, FAM120C, and PHF...

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe cranio...
https://doi.org/10.1007/s00431-014-2317-3
European Journal of Pediatrics; Völter C, Martínez R et. al.

Apr 28th, 2014 - Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene. Patients typically show distinctive skeletal and genital developmental abnormalities, ...

MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 i...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3204846
The Journal of Clinical Investigation; Zou W, Greenblatt MB et. al.

Oct 3rd, 2011 - Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder that affects multiple skeletal structures. FGD1 encodes a guanine nucleotide exchange fact...

Aarskog syndrome
https://rarediseases.info.nih.gov/diseases/4775/aarskog-syndrome

Sep 6th, 2011 - Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face.[1] Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutatio...

see more →