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About 106 results

ALLMedicine™ Scott Syndrome Center

Research & Reviews  53 results

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 ...
https://www.ncbi.nlm.nih.gov/pubmed/33067218
Annals of Clinical and Laboratory Science; Bae GY, Kim MS et. al.

Oct 17th, 2020 - Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial dysmorphism, and skeletal abnormalities. We report the clinical and molecular ana...

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the co...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328892
BMJ Case Reports; Pavone P, Marino S et. al.

Jul 1st, 2020 - Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns ...

Gene of the issue: ANO6 and Scott Syndrome.
https://doi.org/10.1080/09537104.2019.1693039
Platelets Millington-Burgess SL, Harper MT

Nov 20th, 2019 - Gene of the issue: ANO6 and Scott Syndrome.|2019|Millington-Burgess SL,Harper MT,|

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323552
American Journal of Human Genetics; LaCroix AJ, Stabley D et. al.

Dec 17th, 2018 - Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investi...

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 ...

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Clinicaltrials.gov  53 results

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 ...
https://www.ncbi.nlm.nih.gov/pubmed/33067218
Annals of Clinical and Laboratory Science; Bae GY, Kim MS et. al.

Oct 17th, 2020 - Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial dysmorphism, and skeletal abnormalities. We report the clinical and molecular ana...

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the co...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328892
BMJ Case Reports; Pavone P, Marino S et. al.

Jul 1st, 2020 - Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns ...

Gene of the issue: ANO6 and Scott Syndrome.
https://doi.org/10.1080/09537104.2019.1693039
Platelets Millington-Burgess SL, Harper MT

Nov 20th, 2019 - Gene of the issue: ANO6 and Scott Syndrome.|2019|Millington-Burgess SL,Harper MT,|

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323552
American Journal of Human Genetics; LaCroix AJ, Stabley D et. al.

Dec 17th, 2018 - Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal dysplasia caused by pathogenic variants in XYLT1. We report clinical and molecular investi...

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 ...

see more →