ReviewBoneKEy reports2012
Acrodysostosis syndromes.
Review in BoneKEy reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 44 citations in OpenAlex.
- PRKAR1A-related acrodysostosis with partial growth hormone deficiency: 18-month response to recombinant human growth hormone.Hormones (Athens, Greece) · 2026Review
- Recurrent Acrodysostosis-Related PKA RIα Mutant Reveals a Novel Mechanism of Aberrant PKA Deactivation.Journal of molecular biology · 2025Article
- FGFR1 variation in the divergent settings of congenital hypopituitarism and pituitary tumours.Pituitary · 2025Article
- A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.Oxford medical case reports · 2025Article
- Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis.Journal of endocrinological investigation · 2023Article
- Impaired cAMP processivity by phosphodiesterase-protein kinase A complexes in acrodysostosis.Frontiers in molecular biosciences · 2023Article
- Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.Endocrine connections · 2022Article
- Factors affecting prepubertal and pubertal bone age progression.Frontiers in endocrinology · 2022Review
- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
- Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2020Article
- Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report.BMC medical genetics · 2020Article
- 2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.Frontiers in endocrinology · 2019Article
- Parathyroid Hormone-Related Protein in the Hand or Out of Hand?Endocrinology and metabolism (Seoul, Korea) · 2018Article
- What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.BMC medical genetics · 2018Article
- Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.Journal of clinical research in pediatric endocrinology · 2017Review
- Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.Journal of clinical research in pediatric endocrinology · 2017Article
- Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Nature reviews. Endocrinology · 2016Review
- Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.The Journal of biological chemistry · 2015Article
- UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS.AACE clinical case reportsArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acrodysostosis (ADO) refers to a heterogeneous group of rare skeletal dysplasia that share characteristic features including severe brachydactyly, facial dysostosis and nasal hypoplasia. The literature describing acrodysostosis cases has been confusing because some reported patients may have had other phenotypically related diseases presenting with Albright Hereditary Osteodystrophy (AHO) such as pseudohypoparathyroidism type 1a (PHP1a) or pseudopseudohypoparathyroidism (PPHP). A question has been whether patients display or not abnormal mineral metabolism associated with resistance to PTH and/or resistance to other hormones that bind G-protein coupled receptors (GPCR) linked to Gsα, as observed in PHP1a. The recent identification in patients affected with acrodysostosis of defects in two genes, PRKAR1A and PDE4D, both important players in the GPCR-Gsα-cAMP-PKA signaling, has helped clarify some issues regarding the heterogeneity of acrodysostosis, in particular the presence of hormonal resistance. Two different genetic and phenotypic syndromes are now identified, both with a similar bone dysplasia: ADOHR, due to PRKAR1A defects, and ADOP4 (our denomination), due to PDE4D defects. The existence of GPCR-hormone resistance is typical of the ADOHR syndrome. We review here the PRKAR1A and PDE4D gene defects and phenotypes identified in acrodysostosis syndromes, and discuss them in view of phenotypically related diseases caused by defects in the same signaling pathway.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.