Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome

QR Code

Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, a...

Full description

Bibliographic Details
Main Authors:	Abu Bakar, Asrar, Shunmugarajoo, Haema, Nachiappan, Jeyaseelan P., Ismail, Intan Hakimah
Format:	Article
Language:	English
Published:	The Korean Society of Pediatric Infectious Diseases 2024
Online Access:	http://psasir.upm.edu.my/id/eprint/113395/ http://psasir.upm.edu.my/id/eprint/113395/1/113395.pdf

Similar Items

Competitive approaches to PSO algorithms via new acceleration co-efficient variant with mutation operators
by: Arumugam, , MS, et al.
Published: (2005)

STK1094 Analytical Chemistry 1 : Laboratory Manual
by: Universiti Malaysia Sarawak, Faculty of Resource Science and Technology
Published: (2017)

Elevated expression of STK3 mRNA and protein is associated with poor outcome in invasive breast cancer
by: Ojiegbe, S., et al.
Published: (2017)

STK15 Phe31Ile and Val57Ile polymorphisms increase the risk of gastrointestinal cancer
by: Lai, Tianxin, et al.
Published: (2018)

PAX9 mutation of non-syndromic hypodontia in a Malaysian family
by: Mohamed Idrus, Nur Farahiyah, et al.
Published: (2016)

PAX9 mutation of non-syndromic hypodontia in a Malaysian family
by: Mohamed Idrus, Nur Farahiyah, et al.
Published: (2016)

PAX9 mutation of non-syndromic hypodontia in three Malaysian families
by: Lestari, Widya
Published: (2016)

Paediatric invasive pneumococcal disease from two tertiary hospitals in Malaysia
by: Rengasamy, Sithra, et al.
Published: (2020)

Focal segmental membranoproliferative glomerulonephritis: a histological variant of Denys-Drash Syndrome
by: Karmila, A. B., et al.
Published: (2019)

A review on non-syndromic tooth agenesis associated with PAX9 mutations
by: Fauzi, Nurul Hasyiqin, et al.
Published: (2018)

p.R270X MECP2 mutation and mortality in Rett syndrome
by: Jian, Le, et al.
Published: (2005)

Diencephalic syndrome in child with NF-1 and hypothalamic tumour
by: Pilotto, Chiara, et al.
Published: (2018)

Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome
by: Shaw, J., et al.
Published: (2018)

Flowfield-dependent variant method for moving-boundary problems
by: Zulkafli, Mohd Fadhli, et al.
Published: (2014)

Down's syndrome child with subglottic stenosis : a case report
by: Abdullah, Kahairi, et al.
Published: (2006)

Pneumococcal glomerulonephritis in a healthy child: a case report and literature review
by: Ismail, Intan Hakimah, et al.
Published: (2014)

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
by: Urbanowicz, A., et al.
Published: (2015)

Novel PAX4 variant in a child and family with diabetes mellitus - case report and review of the literature
by: Lee, Yee-Lin, et al.
Published: (2023)

Quality of life among Malaysian mothers with a child with Down syndrome
by: Chan, Kim Geok, et al.
Published: (2013)

Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life
by: Townend, G., et al.
Published: (2015)

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations
by: Mohammad, Mardhiah, et al.
Published: (2014)

Moebius and Kallmann syndromes with diabetes insipidus: a phenotype of Fibroblast Growth Factor (FGF) 8 mutation
by: Omar , Ahmad Marzuki, et al.
Published: (2014)

Identification of MSXl gene mutation in Kelantanese patients with various types of non-syndromic cleft lip and palate
by: Nurhanini, Abd Rahman

Caring for a child with severe intellectual disability in China: The example of Rett syndrome
by: Lim, Faye, et al.
Published: (2013)

How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?
by: Downs, Jennepher, et al.
Published: (2016)

Morpho-histological characterization of truncated leaf syndrome seedlings: an oil palm (E. guineensis Jacq.) somaclonal variant
by: Habib, Sheikh Hasna, et al.
Published: (2012)

Squamous cell carcinoma of the tongue in a patient with rothmund-thomson syndrome (Recq4 Mutation) - intolerance to radiotherapy
by: Hamidah A,, et al.
Published: (2009)

A Study On GJB2 And GJB6 Gene Mutations Among Malays With Non-Syndromic Hearing Loss
by: Zainal, Siti Aishah
Published: (2010)

Risk identification for msxi mutation in non-syndromic cleft lip and palate deformities for the formulation of prevention stra tegtes.
by: Sulaiman, Wan Azman Wan, et al.
Published: (2009)

Logical effort base adder circuits transistor sizing using constriction factor and mutative variants of particle swarm optimization algorithm / Muhammad Aiman Johari
by: Johari, Muhammad Aiman
Published: (2015)

On the razi acceleration
by: Mohd Harithuddin, Ahmad Salahuddin, et al.
Published: (2015)

The hunt for mutations
by: Chung, Clarissa
Published: (2021)

Family functioning in families with a child with Down syndrome: A mixed methods approach
by: Povee, Kate, et al.
Published: (2012)

Infantile acute megakaryoblastic leukaemia with T(1:22) in a non-down syndrome child.
by: Nurasyikin Y,, et al.
Published: (2012)

Aspergilloma in a young patient with autosomal-dominant hyper-IgE syndrome
by: Ismail, Intan Hakimah, et al.
Published: (2024)

Parents' of Child with Down's Syndrome: Their Care-giving Experiences, Parent - Child Communicative Pattern at Home and Perceived Quality of Life: A Pilot Study
by: Chan, K.G
Published: (2008)

Concurrent anomaly of right renal and testicular vein
by: Jeyaseelan, Nadankutty, et al.
Published: (2006)

Anatomical Description of a Variant Abductor Digiti Minimi Accessorious Muscle and Its Clinical Correlation with Ulnar Neurovascular Entrapment Syndrome.
by: Avinash T,, et al.
Published: (2014)

Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers’ perspectives
by: Chan, Kim Geok, et al.
Published: (2014)

Care demands on mothers caring for a child with Down syndrome: Malaysian (Sarawak) mothers' perspectives
by: Chan, Kim Geok, et al.
Published: (2015)