scholarly journals GATAD2B Gene Microdeletion Causing Intellectual Disability Autosomal Dominant Type 18: Case Report and Review of the Literature

2019 ◽  
Vol 10 (4) ◽  
pp. 186-194 ◽  
Author(s):  
Milana Trubnykova ◽  
Jeny Bazalar Montoya ◽  
Jorge La Serna-Infantes ◽  
Flor Vásquez Sotomayor ◽  
María del Carmen Castro Mujica ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Dominant Type ◽  
Autosomal Dominant Type

scholarly journals Autosomal Dominant Type II Osteopctrosis in an Asymptomatic Adolescent: A Case Report

2009 ◽  
Vol 22 (2) ◽  
pp. 251-254
Author(s):  
MA Haque ◽  
LS Sharmin ◽  
I Mahmood ◽  
MH Rahman ◽  
D Huda
Keyword(s):  
Case Report ◽  
Bone Resorption ◽  
Autosomal Dominant ◽  
Heterogeneous Group ◽  
Type Ii ◽  
Dominant Type ◽  
Variable Expression ◽  
Variable Mode ◽  
Autosomal Dominant Type ◽  
Mode Of Inheritance

Osteopetrosis is a heterogeneous group of heritable conditions in which there is a defect in bone resorption by osteoclasts. The disease has variable mode of inheritance with variable expression of severity. We are reporting a 14 year old asymptomatic girl with autosomal dominant type II osteopetrosis and then the literature is reviewed.TAJ 2009; 22(1): 251-254

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

2009 ◽  
pp. 1179-1180
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Punctate Calcification Group

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Chondrodysplasia Punctata ◽  
Limb Defects ◽  
Dominant Type ◽  
Radiographic Features ◽  
Keutel Syndrome ◽  
Punctate Calcification ◽  
Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

An autosomal dominant type of congenital muscular dystrophy

1985 ◽  
Vol 87 (3) ◽  
pp. 232
Author(s):  
Q. Leyten ◽  
F. Gabreëls ◽  
W. Renier ◽  
B. ter Haar ◽  
E. Joosten ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Congenital Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type
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