Abstract:
:Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by ectopic bone formation involving the connective tissues leading to severe skeletal manifestations. The genetic defect in this disorder has not been characterized in Indian patients till date. The authors report three cases of FOP along with the molecular defects identified in them. Exon 4 of the ACVR1 gene was amplified and analysed by sequencing. All three cases revealed common heterozygous mutation i.e., c.617(G>A). Identification of this mutation would lead to decrease in misdiagnosis and subsequent iatrogenic harm caused to these children by unnecessary surgical procedures. Also, mutation detection would provide an opportunity for prenatal diagnosis.
journal_name
Indian J Pediatrjournal_title
Indian journal of pediatricsauthors
Shukla A,Taywade O,Stephen J,Gupta D,Phadke SRdoi
10.1007/s12098-013-1117-5subject
Has Abstractpub_date
2014-06-01 00:00:00pages
617-9issue
6eissn
0019-5456issn
0973-7693journal_volume
81pub_type
杂志文章abstract::Growth monitoring and nutritional assessment, as means to detect malnutrition, are 2 different types of programs in terms of conception, purposes, and execution. Growth monitoring starts as detection of malnutrition, then acts through prevention by communication to mothers, and finally utilizes community participatio...
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