dc.contributor.author |
Joseph Anne, D. D. |
|
dc.contributor.author |
Sirisena Nirmala, D. |
|
dc.contributor.author |
Kumanan, T. |
|
dc.contributor.author |
Sujanitha, V. |
|
dc.date.accessioned |
2022-09-26T05:40:47Z |
|
dc.date.available |
2022-09-26T05:40:47Z |
|
dc.date.issued |
2019 |
|
dc.identifier.citation |
3rd Annual Rare Disease Day Symposium 2019, 28th February 2019 at New Auditorium of Lady Ridgeway Children’s Hospital, Colombo, Sri Lanka. |
en_US |
dc.identifier.uri |
http://repo.lib.jfn.ac.lk/ujrr/handle/123456789/7514 |
|
dc.language.iso |
en |
en_US |
dc.publisher |
Rare Disease Forum of the Sri Lanka College of Paediatricians |
en_US |
dc.subject |
Hypoparathyroidism |
en_US |
dc.subject |
Renal disease |
en_US |
dc.subject |
Barakat syndrome |
en_US |
dc.subject |
Sensorineural deafness |
en_US |
dc.title |
A family with hypoparathyroidism, sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3 |
en_US |
dc.type |
Research abstract |
en_US |