Cargando…

DIDMOAD syndrome: a family with three affected siblings.

Detalles Bibliográficos
Autores principales:	Varghese, A., Sims, B. A.
Formato:	Texto
Lenguaje:	English
Publicado:	Ulster Medical Society 1991
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2448626/ https://www.ncbi.nlm.nih.gov/pubmed/1853485

Ejemplares similares

Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome
por: Maleki, Nasrollah, et al.
Publicado: (2016)

Fraser syndrome in three consecutive siblings
por: Kalaniti, Kaarthigeyan, et al.
Publicado: (2011)

Familial BASCULE Syndrome in Two Siblings
por: Romero-Jiménez, Belén, et al.
Publicado: (2023)

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings
por: Kimura, Daisaku, et al.
Publicado: (2018)

Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family
por: Madhu, Sri Venkat, et al.
Publicado: (2012)

Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family
por: Alhuzaim, Omar N, et al.
Publicado: (2022)

SPG20 mutation in three siblings with familial hereditary spastic paraplegia
por: Dardour, Leila, et al.
Publicado: (2017)

Siblings’ Perceptions of Their ADHD-Diagnosed Sibling’s Impact on the Family System
por: King, Kerry, et al.
Publicado: (2016)

Behçet Disease (BD) in two siblings affected with Familial Mediterranean Fever (FMF)
por: Calcagno, G, et al.
Publicado: (2008)

Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family
por: Ahmed, Fathelrahman E., et al.
Publicado: (2009)

Familial Amyloidosis Cutis Dyschromica in Three Siblings: Report from Indonesia
por: Hermawan, Melyawati, et al.
Publicado: (2014)

The syndromic multiple odontogenic keratocyst in siblings: A familial study
por: Kalia, Vimal, et al.
Publicado: (2011)

Living with sibling’ drug use. Bereaved siblings’ family stories
por: Lindeman, Sari Kaarina, et al.
Publicado: (2023)

Familial colorectal cancer risk in half siblings and siblings: nationwide cohort study
por: Tian, Yu, et al.
Publicado: (2019)

Three siblings with familial non-medullary thyroid carcinoma: a case series
por: Rashid, Muhammad Owais, et al.
Publicado: (2016)

Angelman syndrome in three biological siblings: Focusing on the neuropsychiatric domain
por: Panda, Akhila Kumar, et al.
Publicado: (2013)

Successful treatment with two siblings affected classic Bartter syndrome
por: Khanh, Nguyen Ngoc, et al.
Publicado: (2015)

SYBERT’S KERATODERMA IN THREE SIBLINGS
por: Pai, Varadraj V, et al.
Publicado: (2010)

Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome
por: Bingeliene, Arina, et al.
Publicado: (2015)

Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in adolescence. Report of three siblings
por: Shivaprasad, K. S., et al.
Publicado: (2012)

Papillon-Lefevre syndrome: A case report of 2 affected siblings
por: Sharma, Anupriya, et al.
Publicado: (2013)

The Family System of Sexuality Communication: Extended Family Perceptions of Adolescent–Family Talk about Sex, with Sibling and Non-Sibling Comparison
por: Grossman, Jennifer M., et al.
Publicado: (2020)

Lisch nodules and iris mammillations in two siblings with familial legius syndrome
por: Bixel, Kaitlyn D., et al.
Publicado: (2020)

Clinicopathologic Findings in Three Siblings With Geographic Atrophy
por: Edwards, Malia M., et al.
Publicado: (2023)

Phthiriasis palpebrarum in three young siblings
por: Papageorgiou, Eleni, et al.
Publicado: (2018)

Laron syndrome in three female siblings with the development of subclinical hypothyroidism and dyslipidemia in one case: first report of a Syrian family
por: Chreitah, Ahmad, et al.
Publicado: (2021)

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report
por: Klaniewska, Magdalena, et al.
Publicado: (2021)

Sibling Death in the Family and Dementia Risk
por: Cha, Hyungmin, et al.
Publicado: (2020)

Megalencephalic leukoencephalopathy with subcortical cysts in all three siblings of a non-Aggarwal Indian family
por: Kumar, Mani Kant, et al.
Publicado: (2012)

Genetic and Familial Environmental Effects on Suicide – An Adoption Study of Siblings
por: Petersen, Liselotte, et al.
Publicado: (2013)

Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings
por: Raghuveer, Chekuri, et al.
Publicado: (2015)

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings
por: Dhaliwal, Jasleen, et al.
Publicado: (2021)

Case report of two affected siblings in a family with thiamine metabolism dysfunction syndrome 5: a rare, but treatable neurodegenerative disease
por: Li, Xiaoyan, et al.
Publicado: (2022)

Two Siblings with Familial Chylomicronemia Syndrome: Disease Course and Effectiveness of Early Treatment
por: AL Azkawi, Hanan, et al.
Publicado: (2010)

A missense mutation in the BRCA2 gene in three siblings with ovarian cancer.
por: Roth, S., et al.
Publicado: (1998)

A genome-wide scan for type 1 diabetes susceptibility genes in nuclear families with multiple affected siblings in Finland
por: Qiao, Qing, et al.
Publicado: (2007)

Cleidocranial Dysplasia: Case Report of Three Siblings
por: Mathur, Rinku, et al.
Publicado: (2009)

Hypomyelination and Congenital Cataract: Three Siblings Presentation
por: Karalok, Zeynep Selen, et al.
Publicado: (2020)

Somatic and germline analysis of a familial Rothmund–Thomson syndrome in two siblings with osteosarcoma
por: Gutiérrez-Jimeno, Miriam, et al.
Publicado: (2020)

Case Report: A rare case of familial lung cancer requiring pneumonectomy in three male siblings
por: Kaprin, Andrey, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_pcfmssdaqclkb92sp66rhmpgk2