A Filipino Child with Dyskeratosis Congenita with a C?T substitution on nucleotide 1058 of the DKC1 gene

Miraflor Bas-Bucao
Barbra Charina V. Cavan
Susana Deborah P. Limchiu
Aida Metzenberg

DOI:

https://doi.org/10.47895/amp.v43i1.2464

Keywords:

dyskeratosis congenita DKC Zinsser-Engman-Cole syndrome congenita dyskeratosis

Abstract

...

References

How to Cite

1.

A Filipino Child with Dyskeratosis Congenita with a C?T substitution on nucleotide 1058 of the DKC1 gene. Acta Med Philipp [Internet]. 2009 Dec. 14 [cited 2026 Aug. 21];43(1). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/2464

Most read articles by the same author(s)

Carmencita David-Padilla, Eva Maria Cutiongco-de la Paz, Barbra Charina V. Cavan, Conchita G. Abarquez, Aster Lynn D. Sur, Rommel I. Sales, Edgar Winston C. Posecion, Lita L. Orbillo, Juanita A. Basilio, Establishment of the Philippine Birth Defects Surveillance , Acta Medica Philippina: Vol. 45 No. 4 (2011): Genetics 4
Melissa Mae P. Baluyot, Barbra Charina V. Cavan, Maria Melanie Liberty B. Alcausin, Osteogenesis Imperfecta Type V: A Report of Two Filipino Families and Review of Literature , Acta Medica Philippina: Vol. 49 No. 4 (2015)
Maria Melanie B. Alcausin, John Karl L. de Dios, Mary Anne D. Chiong, Barbra Charina V. Cavan, Carmencita David-Padilla, Intravenous Pamidronate Treatment in Filipino Children with Moderate to Severe Osteogenesis Imperfecta , Acta Medica Philippina: Vol. 45 No. 4 (2011): Genetics 4
Barbra Charina V. Cavan, Aubrey E. Reroma, Margaret S. Modequillo, A Case of Spinal Muscular Atrophy Type 1 in a Filipino Infant , Acta Medica Philippina: Vol. 45 No. 4 (2011): Genetics 4
Barbra Charina V. Cavan, Rudy A. Amatong, Edgardo Martin C. Serafica, Bridget Christa V. Cavan-Jumamoy, Leopoldo L. Jiao III, Ellis-van Creveld Syndrome in Two Filipino Siblings , Acta Medica Philippina: Vol. 43 No. 1 (2009)
Barbra Charina V. Cavan, Jonna A. Masongsong, Peter Y. Mancao, Arnold A. Tan, Complete Sternal Cleft in a Filipino Newborn , Acta Medica Philippina: Vol. 43 No. 1 (2009)
Barbra Charina V. Cavan, Edgardo Martin C. Serafica, Margaret S. Modequillo, Cynthia F. Melicor, Thrombocytopenia in a Filipino Child with Mosaic Monosomy 21/ Ring Chromosome 21 , Acta Medica Philippina: Vol. 43 No. 1 (2009)

Similar Articles

Pio F. Poblete, Milagros Reyes, Lourdes Manahan, Adelaida Dalmacio-Cruz, Rotor’s Syndrome: A Family Study* , Acta Medica Philippina: Vol. 56 No. 2 (2022): Dr. Lourdes A. Manahan Centennial Rheumatology Issue
Aznaida T. Pandapatan, MD, Cindy J. Tan, MD, Joyce Anne S. Tan, MD, Olmsted Syndrome in a 12-year-old Filipino Male: A Case Report and Future Directions , Acta Medica Philippina: Vol. 58 No. 17 (2024): Dermatology Issue 3
Michael Ryan A. Manera, Anna Margarita F. Hilvano-Corsiga, Two Airway Management Techniques in a Pediatric Patient with Temporomandibular Joint Ankylosis: Two-stage Fiberoptic Scope Intubation Technique and Video Laryngoscope-guided Conversion from Nasotracheal to Orotracheal Intubation — A Case Report , Acta Medica Philippina: Vol. 56 No. 18 (2022): Anesthesiology Issue
Mary Ann R. Abacan, Richard dL. Quing, Maria Melanie Liberty B. Alcausin, Bernard U. Tansipek, Eva Maria Cutiongco-Dela Paz, Two Filipino Children with Oromandibular Limb Hypogenesis Spectrum , Acta Medica Philippina: Vol. 51 No. 3 (2017)
Jeffrey I. Lappay, MD, Benilda C. Sanchez-Gan, MD, Michelle E. Abadingo, MD, Electrical Status Epilepticus during Sleep in a Male Filipino with Rare Nonsense Mutation Variant of Sotos Syndrome on Carbamazepine Monotherapy , Acta Medica Philippina: Vol. 58 No. 4 (2024)
Edith S. Tria, MD, Joy P. Calayo, RMT, MSc, Zita R. Dela Merced, MD, Joel T. Duque, MD, Cayel Jurist C. Garong, John Robert C. Medina, MD, MHS, Geraldine B. Dayrit, RMT, MSc, DRDM, RMicro, PhD, Association of SARS-COV-2 Real-Time PCR Cycle Threshold (Ct) Values with the Clinical and Laboratory Profiles of Confirmed COVID-19 Patients Admitted in Tertiary Infectious Disease Hospital in Manila: A Retrospective Study , Acta Medica Philippina: Vol. 59 No. 17 (2025)
Eugene John F. Balmores Jr., MD, A Case Report of Mega Cisterna Magna with Extra-cranial Features of Dandy-Walker Malformation in an Adult: Implications for the Dandy-Walker Complex Continuum , Acta Medica Philippina: Vol. 59 No. 20 (2025)
Ronaldo Q. De Vera, Grace G. Penserga, Jose Paulo P. Lorenzo, A Philippine Tertiary Hospital Cross-sectional and Registry Feasibility Study: Gout Clinical Case Scenario , Acta Medica Philippina: Vol. 56 No. 2 (2022): Dr. Lourdes A. Manahan Centennial Rheumatology Issue
Maria Melanie B. Alcausin, John Karl L. de Dios, Mary Anne D. Chiong, Barbra Charina V. Cavan, Carmencita David-Padilla, Intravenous Pamidronate Treatment in Filipino Children with Moderate to Severe Osteogenesis Imperfecta , Acta Medica Philippina: Vol. 45 No. 4 (2011): Genetics 4
Rona Maria R. Abad, Johanna Pauline H. Lazo-Dizon, A 1-year-old Female with Maple Syrup Urine Disease Presenting with Acrodermatitis-Enteropathica-like Lesions , Acta Medica Philippina: Vol. 52 No. 6 (2018)

1-10 of 605 Next

You may also start an advanced similarity search for this article.

Shape the Future of Philippine Medicine

Become a Peer Reviewer for Acta Medica Philippina — join a growing community of experts advancing Philippine medical research.