Cargando…

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Pre...

Descripción completa

Detalles Bibliográficos
Autores principales:	Baothman, Abdullah A., AlSobhi, Enaam, Khayat, Hassan A., Alsulami, Raed E., Alkahtani, Abdulaziz S., Al‐Thobyani, Abdelraheem A., Marzouk, Yousef I., Abdelaal, Mohammad A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331256/ https://www.ncbi.nlm.nih.gov/pubmed/28265398 http://dx.doi.org/10.1002/ccr3.699

Ejemplares similares

Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities
por: Almarzouki, Hashem S., et al.
Publicado: (2016)

Consistency Test between Scoring Systems for Predicting Outcomes of Chronic Myeloid Leukemia in a Saudi Population Treated with Imatinib
por: Banjar, Haneen R., et al.
Publicado: (2017)

Overall survival of adult acute myeloid leukemia based on cytogenetic and molecular abnormalities during 5 years in a single center study
por: Alsobhi, Enaam M., et al.
Publicado: (2019)

A Case of Implantable Collamer Lens (ICL) with Reverse Orientation for 10 Years
por: AlQahtani, Bader S., et al.
Publicado: (2021)

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay
por: Umair, Muhammad, et al.
Publicado: (2020)

A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy
por: Alhamoudi, Kheloud M., et al.
Publicado: (2021)

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
por: Al Tuwaijri, Abeer, et al.
Publicado: (2022)

Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review
por: Ehaideb, Salleh N., et al.
Publicado: (2018)

Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8
por: Badawi, Abdulrahman H., et al.
Publicado: (2022)

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
por: Shao, Diane D., et al.
Publicado: (2021)

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
por: Chia, Poh Hui, et al.
Publicado: (2018)

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay
por: Hexner-Erlichman, Zufit, et al.
Publicado: (2022)

Dupilumab-Induced Scalp Psoriasis in a Patient With Prurigo Nodularis: A Case Report
por: Al Hawsawi, Khalid, et al.
Publicado: (2023)

The Association Between Neck Pain and Psychological Distress Experienced by King Abdulaziz University Students: A Cross-Sectional Study
por: Alghamdi, Mohammed S, et al.
Publicado: (2023)

Immune dysregulation caused by homozygous mutations in CBLB
por: Janssen, Erin, et al.
Publicado: (2022)

Towards an Effective Service Allocation in Fog Computing
por: Alsemmeari, Rayan A., et al.
Publicado: (2023)

Sentinel-2 image transformation methods for mapping oil spill – A case study with Wakashio oil spill in the Indian Ocean, off Mauritius
por: Rajendran, Sankaran, et al.
Publicado: (2021)

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
por: Phillips, E., et al.
Publicado: (2019)

Giant Traumatic Diaphragmatic Hernia: A Report of Delayed Presentation
por: Alsuwayj, Abbas H, et al.
Publicado: (2021)

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
por: Al Mutairi, Fuad, et al.
Publicado: (2020)

Body Mass Index Within Multifactor Predictors of Ventral Hernia Recurrence: A Retrospective Cohort Study
por: Alansari, Abdulwahab H, et al.
Publicado: (2023)

Expression of Concern: Giant Traumatic Diaphragmatic Hernia: A Report of Delayed Presentation
por: Alsuwayj, Abbas H, et al.
Publicado: (2022)

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
por: Fontana, Paolo, et al.
Publicado: (2023)

A sporadic case of unilateral acrokeratoelastoidosis in Saudi Arabia: a case report
por: AlKahtani, Hassan S, et al.
Publicado: (2014)

Appearance of Population, Intervention, Comparison, and Outcome as research question in the title of articles of three different anesthesia journals: A pilot study
por: Eldawlatly, Abdelazeem, et al.
Publicado: (2018)

Delayed Repercussions of Blunt Trauma: Isolated Muscular Ventricular Septal Defect
por: Al-Hijji, Mohammed A., et al.
Publicado: (2017)

Identification and Treatment of Patients with Homozygous Familial  Hypercholesterolaemia: Information and Recommendations from a  Middle East Advisory Panel
por: Al-Ashwal, Abdullah, et al.
Publicado: (2015)

Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
por: Bodoor, Khaldon, et al.
Publicado: (2016)

Weighty Matters: The Obesity–Thyroid Nodule Connection Unveiling the Impact of Obesity on Thyroid Cancer Risk
por: Alqahtani, Saad M., et al.
Publicado: (2023)

A rare case of Kasabach Merritt Syndrome presenting with an infantile hemangioma: A case report
por: Alghobaishi, Abdullah, et al.
Publicado: (2022)

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families
por: Aldosary, Mazhor, et al.
Publicado: (2022)

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly
por: Pagnamenta, Alistair T., et al.
Publicado: (2018)

Knowledge and attitude of paediatric first aid among elementary schoolteachers in Jeddah, Saudi Arabia
por: Alsulami, Maher, et al.
Publicado: (2022)

Spontaneous Resolution of Foveal Sub-internal Limiting Membrane Hemorrhage with Excellent Visual and Anatomical Outcome in a Patient with Acute Myeloid Leukemia
por: Alamri, Osama Saeed, et al.
Publicado: (2020)

Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient
por: Alsohime, Fahad, et al.
Publicado: (2020)

Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
por: Chan, Melissa V., et al.
Publicado: (2020)

Reasons for not performing surface ablation refractive surgery in Saudi population
por: Alsulami, Raed, et al.
Publicado: (2020)

Performance of Children With Donnai-Barrow Syndrome After Cochlear Implantation: A Case Report
por: Alyousef, Mohammed Yousef, et al.
Publicado: (2022)

Portal Hypertension of a Delayed Onset Following Liver Abscesses in a 12-Month-Old Infant: A Case Report and Review of the Literature
por: Al-Qurashi, Faisal Othman, et al.
Publicado: (2019)

The Role of Plant Growth-Promoting Bacteria in Alleviating the Adverse Effects of Drought on Plants
por: Abdelaal, Khaled, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_l6stcbh3p8437u6al8hfpmbh3r