Full-color medical illustrations present key anatomic details in a clear manner. Thousands of digital-quality images depict the complete range of normal and abnormal imaging presentations. [books.google.com]

In family 1, the ACAN mutation was not present in either parent (with paternity confirmed by single nucleotide polymorphism array analysis), and therefore the mutation arose de novo in the proband, which explains the sporadic presentation. [ncbi.nlm.nih.gov]

Additional ACAN variants have also been described where only the probands present with OCD8,15,16,17,18,19,20. [nature.com]

Susanne Grässel, Attila Aszódi Springer, 25.01.2017 - 261 Seiten In three Volumes this mini book series presents current knowledge and new perspectives on cartilage as a specialized yet versatile tissue. [books.google.de]

The G2 region also possesses two B-type domains, but does not appear to interact with HA (Fosang and Hardingham, 1989), and at present its function is unknown. [biology-online.org]

• Barrel Chest

  Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [genecards.org]

  A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. [pathwaycommons.org]

• Normal Hearing

  She has mild myopia (− 0.50) and normal hearing. She was the first child born to non-consanguineous parents of Scotch, Canadian (Nova Scotia), English, and German ancestry, a 26-year-old mother 170 cm tall and a 34-year-old father 155 cm tall. [nature.com]

Form a definitive diagnosis and create the best treatment plans possible using evidence-based medicine and astute clinical experiences from leading international authors—many new to this edition. [books.google.de]

There is a study titled Evaluation and Treatment of Skeletal Diseases which may be of interest to you. [rarediseases.info.nih.gov]

An adequate genetic evaluation usually facilitates decisions about therapeutic intervention and gives clues about the prognosis. 2. Genetic disorders with primary effect on growth 2.1. [intechopen.com]

Etiology The disease results from a missense mutation affecting the C-type lectin domain of aggrecan ( AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive. [orpha.net]

Disorder of glycolysis Orphanet_308459 Disorder of carbohydrate metabolism Orphanet_79161 Rhizomelic chondrodysplasia punctata type 1 Orphanet_309789 etiological subtype Orphanet_377795 [Subdivision of a disease, malformation syndrome, morphological anomaly [ebi.ac.uk]

Etiology The disease results from a missense mutation affecting the C-type lectin domain of aggrecan ( AGC1 gene ; chromosome 15) which regulates endochondral ossification. Transmission is autosomal-recessive. [rarediseases.info.nih.gov]

Summary Epidemiology To date, three cases have been described, all originating from the same family. Clinical description Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. [orpha.net]

Relevant External Links for ACAN Genetic Association Database (GAD) ACAN Human Genome Epidemiology (HuGE) Navigator ACAN Atlas of Genetics and Cytogenetics in Oncology and Haematology: ACAN No data available for Genatlas for ACAN Gene Complete coding [genecards.org]

Epidemiology To date, three cases have been described, all originating from the same family. Clinical description Facial features include midface hypoplasia with almost absent nasal cartilage, and relative prognathism and macrocephaly. [rarediseases.info.nih.gov]

Cartilage Physiology and Pathophysiology 190 Intervertebral Disc Degeneration 229 Urheberrecht Häufige Begriffe und Wortgruppen Über den Autor (2017) Editors: Prof. [books.google.de]

Cartilage Physiology and Pathophysiology 190 Intervertebral Disc Degeneration 229 Página de créditos Términos y frases comunes Sobre el autor (2017) Editors: Prof. [books.google.es]

The role of the SHOX gene in the pathophysiology of Turner syndrome. Endocrinol Nutr 2011;58:433–42. 19. Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, et al. Complete SHOX deficiency causes Langer mesomelic dysplasia. [e-apem.org]

Chondroitin sulfate modulates cell fate as it appears to prevent apoptosis and is involved in cell proliferation. [moam.info]