[PDF][PDF] Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

S Annunen, J Körkkö, M Czarny, ML Warman… - The American Journal of …, 1999 - cell.com
Stickler and Marshall syndromes are dominantly inherited chondrodysplasias characterized
by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Since the …

[HTML][HTML] The genetics of aniridia—simple things become complicated

A Wawrocka, MR Krawczynski - Journal of applied genetics, 2018 - Springer
Aniridia is a rare, panocular disorder characterized by a variable degree of hypoplasia or the
absence of iris tissue associated with additional ocular abnormalities. It is inherited in an …

[HTML][HTML] Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

A Skorczyk-Werner, P Pawłowski, M Michalczuk… - Journal of applied …, 2015 - Springer
Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system
impairment, characterised by the presence of numerous small, white-yellow retinal lesions …

[HTML][HTML] Current models of care for disorders of sex development–results from an international survey of specialist centres

A Kyriakou, A Dessens, J Bryce, V Iotova, A Juul… - Orphanet Journal of …, 2016 - Springer
Background To explore the current models of practice in centres delivering specialist care
for children with disorders of sex development (DSD), an international survey of 124 …

Achromatopsia mutations target sequential steps of ATF6 activation

WC Chiang, P Chan, B Wissinger… - Proceedings of the …, 2017 - National Acad Sciences
Achromatopsia is an autosomal recessive disorder characterized by cone photoreceptor
dysfunction. We recently identified activating transcription factor 6 (ATF6) as a genetic cause …

Involving individuals with disorders of sex development and their parents in exploring new models of shared learning: proceedings from a DSDnet COST action …

C Sanders, J Hall, C Sanders, A Dessens, J Bryce… - Sexual …, 2018 - karger.com
The level of connection between health care professionals and people who experience a
condition that affects sex development is variable. These people and associated support …

[HTML][HTML] Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

A Dessens, G Guaragna-Filho, A Kyriakou… - BMJ paediatrics …, 2017 - ncbi.nlm.nih.gov
Objective Disorders in sex development (DSD) can be treated well medically, but families
will encounter many psychosocial challenges. Promoting counselling to facilitate …

[HTML][HTML] Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

A Skorczyk-Werner, WC Chiang, A Wawrocka… - European Journal of …, 2017 - nature.com
Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous,
making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel …

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe

A Ścieżyńska, D Oziębło, AM Ambroziak… - Experimental eye …, 2016 - Elsevier
Variation in the ABCA4 locus has emerged as the most prevalent cause of monogenic
retinal diseases. The study aimed to discover causative ABCA4 mutations in a large but not …

[HTML][HTML] Integrating clinical and genetic approaches in the diagnosis of 46, XY disorders of sex development

Z Kolesinska, J Acierno Jr, SF Ahmed… - Endocrine …, 2018 - ec.bioscientifica.com
Objective: 46, XY differences and/or disorders of sex development (DSD) are clinically and
genetically heterogeneous conditions. Although complete androgen insensitivity syndrome …