Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism

Pediatric Radiology

Volumn 31, Issue 1, 2001, Pages 2-9

  Graham Jr , John M ^a   Krakow, Deborah ^a   Tolo, Vernon T ^b   Smith, Andrew K ^a   Lachman, R S ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ACRODYSOSTOSIS; ADOLESCENT; ADULT; ALPHA CHAIN; ARTICLE; BONE RADIOGRAPHY; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DYSOSTOSIS; EXON; FACE MALFORMATION; FAMILY; FEMALE; FOLLOW UP; GENE MUTATION; HEARING LOSS; HUMAN; HYPOPLASIA; INCIDENCE; LABORATORY TEST; LAMINECTOMY; MALE; MENTAL DEFICIENCY; NOSE; PATHOGENESIS; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PUBLICATION; REGISTER; RISK FACTOR; SCREENING; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINE RADIOGRAPHY; VERTEBRAL CANAL STENOSIS;

DYSOSTOSES; FEMALE; FOLLOW-UP STUDIES; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; HYPOPARATHYROIDISM; INFANT, NEWBORN; MALE; MUTATION;

EID: 0035141410     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470000355     Document Type: Article

References (17)

1. Acrodysostosis associated with spinal canal stenosis
2. Acrodysostosis: A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation
3. Acrodysostosis: Report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis
4. Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localized to 2q37
5. Acrodysostosis: Is it a G protein abnormality?
6. SSCP and segregation analysis of the human type X collagen gene (COL 10a1) in heritable forms of chondrodysplasia
7. Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism
8. The pattern of shortening of the bones of the hand in PHP and PPHP-A comparison with brachydactyly E, Turner syndrome and acrodysostosis
9. Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblings
10. Die Akrodysostose - Eine autosomal-dominant vererbte periphere Dysplasia
11. Acrodysostosis in two generations: An autosomal dominant syndrome
12. Autosomal dominant transmission of acrodysostosis
13. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
14. Albright's hereditary osteodystrophy and defective G proteins
15. Albright's hereditary osteodystrophy
16. Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acro dysostosis
17. Familial acrodysostosis: Can it be distinguished from Albright's hereditary osteodystrophy?