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About 78 results

ALLMedicine™ Acrodysostosis Center

Research & Reviews  39 results

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different n...
https://doi.org/10.1007/s12020-020-02533-9
Endocrine Elli FM, Mantovani G

Nov 12th, 2020 - Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first descrip...

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need f...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526353
BMC Medical Genetics; Kartalias K, Gillies AP et. al.

Sep 30th, 2020 - Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and adva...

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichth...
https://doi.org/10.1002/ajmg.a.61782
American Journal of Medical Genetics. Part A REFERENCES; Velasco HM, Ullah E et. al.

Aug 12th, 2020 - Acrodysostosis refers to a rare heterogeneous group of bone dysplasias that share skeletal features, hormone resistance, and intellectual disability. Two genes have been associated with acrodysostosis with or without hormone resistance (PRKAR1A an...

see more →

Clinicaltrials.gov  39 results

Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different n...
https://doi.org/10.1007/s12020-020-02533-9
Endocrine Elli FM, Mantovani G

Nov 12th, 2020 - Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first descrip...

Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need f...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526353
BMC Medical Genetics; Kartalias K, Gillies AP et. al.

Sep 30th, 2020 - Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-shaped epiphyses, short stature, and adva...

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichth...
https://doi.org/10.1002/ajmg.a.61782
American Journal of Medical Genetics. Part A REFERENCES; Velasco HM, Ullah E et. al.

Aug 12th, 2020 - Acrodysostosis refers to a rare heterogeneous group of bone dysplasias that share skeletal features, hormone resistance, and intellectual disability. Two genes have been associated with acrodysostosis with or without hormone resistance (PRKAR1A an...

see more →