[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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
genetically heterogeneous conditions. Although complete androgen insensitivity syndrome …