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About 1,671 results

ALLMedicine™ Syndactyly Center

Research & Reviews  835 results

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033735
Orphanet Journal of Rare Diseases; Park JE, Lee T et. al.

Apr 10th, 2021 - Smith-Lemli-Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital abnormalities, ...

Utilization of a Newly Designed Asymmetric Dorsal Gull Wing Flap for the Treatment of P...
https://doi.org/10.1097/SAP.0000000000002812
Annals of Plastic Surgery; Yuan X, Zhang X et. al.

Apr 9th, 2021 - Web creep is the most common long-term complication requiring revision after syndactyly surgery; however, few methods have been reported. The aim of this study was to introduce a newly designed asymmetric dorsal gull wing flap to reconstruct web f...

Expanding the phenotype of CACNA1C mutation disorders.
https://doi.org/10.1002/mgg3.1673
Molecular Genetics & Genomic Medicine; Gakenheimer-Smith L, Meyers L et. al.

Apr 2nd, 2021 - Pathogenic variants in the L-type Ca2+ channel gene CACNA1C cause a multi-system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatri...

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
https://doi.org/10.1002/ajmg.a.62154
American Journal of Medical Genetics. Part A; Dinçer T, Gümüş E et. al.

Mar 13th, 2021 - Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reporte...

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
https://doi.org/10.1002/ajmg.a.62163
American Journal of Medical Genetics. Part A; Koprulu M, Kumare A et. al.

Mar 12th, 2021 - Fraser syndrome is characterized by cryptophthalmos, syndactyly and other autopod defects, and abnormalities of the respiratory and urogenital tracts. Biallelic variants in GRIP1 can cause Fraser syndrome 3 (FRASRS3), and five unrelated FRASRS3 ca...

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Clinicaltrials.gov  835 results

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033735
Orphanet Journal of Rare Diseases; Park JE, Lee T et. al.

Apr 10th, 2021 - Smith-Lemli-Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital abnormalities, ...

Utilization of a Newly Designed Asymmetric Dorsal Gull Wing Flap for the Treatment of P...
https://doi.org/10.1097/SAP.0000000000002812
Annals of Plastic Surgery; Yuan X, Zhang X et. al.

Apr 9th, 2021 - Web creep is the most common long-term complication requiring revision after syndactyly surgery; however, few methods have been reported. The aim of this study was to introduce a newly designed asymmetric dorsal gull wing flap to reconstruct web f...

Expanding the phenotype of CACNA1C mutation disorders.
https://doi.org/10.1002/mgg3.1673
Molecular Genetics & Genomic Medicine; Gakenheimer-Smith L, Meyers L et. al.

Apr 2nd, 2021 - Pathogenic variants in the L-type Ca2+ channel gene CACNA1C cause a multi-system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatri...

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.
https://doi.org/10.1002/ajmg.a.62154
American Journal of Medical Genetics. Part A; Dinçer T, Gümüş E et. al.

Mar 13th, 2021 - Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most of the BPS cases reporte...

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
https://doi.org/10.1002/ajmg.a.62163
American Journal of Medical Genetics. Part A; Koprulu M, Kumare A et. al.

Mar 12th, 2021 - Fraser syndrome is characterized by cryptophthalmos, syndactyly and other autopod defects, and abnormalities of the respiratory and urogenital tracts. Biallelic variants in GRIP1 can cause Fraser syndrome 3 (FRASRS3), and five unrelated FRASRS3 ca...

see more →