ALLMedicine™ Acrodysostosis Center
Research & Reviews 37 results
https://doi.org/10.1177/1938640020970364
Foot & Ankle Specialist; Mansur H, Maranho DA
Nov 20th, 2020 - Level V: Case report.
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...
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...
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...
https://doi.org/10.1002/ajmg.a.61163
American Journal of Medical Genetics. Part A; Truelove A, Mulay A et. al.
May 1st, 2019 - Albright hereditary osteodystrophy (AHO) is a complex disorder defined by the presence of a short adult stature relative to the height of an unaffected parent and brachydactyly type E, as well as a stocky build, round face, and ectopic calcificati...
Clinicaltrials.gov 37 results
https://doi.org/10.1177/1938640020970364
Foot & Ankle Specialist; Mansur H, Maranho DA
Nov 20th, 2020 - Level V: Case report.
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...
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...
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...
https://doi.org/10.1002/ajmg.a.61163
American Journal of Medical Genetics. Part A; Truelove A, Mulay A et. al.
May 1st, 2019 - Albright hereditary osteodystrophy (AHO) is a complex disorder defined by the presence of a short adult stature relative to the height of an unaffected parent and brachydactyly type E, as well as a stocky build, round face, and ectopic calcificati...
