Only 3% of normal transcript was present in the patient compared with control, measured by RT-PCR. [academic.oup.com]

The child presented in the neonatal period in respiratory distress with classical features of the syndrome. Aggressive initial respiratory management was later followed up with an integrated multidisciplinary team approach. [pesquisa.bvsalud.org]

Hoyeraal-Hreidarsson syndrome) 10.1007/s00431-003-1317-5 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 10.1093/hmg/7.3.507 Comparison of clinical presentations [paperbase.net]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Standard Therapies Treatment The treatment of CCMS is based on the symptoms that a person with CCMS has. Treatment may require a group effort from a team of specialists. [rarediseases.org]

A delay in retrograde trafficking could be demonstrated by Brefeldin A treatment of this patient's fibroblasts. [academic.oup.com]

[…] maturation and rhizomelia 10.1038/ejhg.2015.266 Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients 10.1002/ajmg.a.37384 Metabolic correction induced by leptin replacement treatment [paperbase.net]

THORACIQUE MORT COMPLICATION PRONOSTIC PNEUMOLOGIE Keyword (en) MALFORMATION MICROGNATHIA PSYCHOMOTOR RETARDATION SYNDROME HEREDITARY RADIOGRAPHY RESPIRATORY FAILURE BRAIN (VERTEBRATA) MAXILLARY DIAGNOSTIC NEW BORN HUMAN CHEST WALL DEATH COMPLICATION PROGNOSIS [pascal-francis.inist.fr]

Cerebro-costo-mandibular syndrome: Prognosis and proposal for classification. Congenital Anomalies. 2010; 50:171–174 INTERNET McKusick VA, O’Neill MJF. Cerebrocostomandibular Syndrome (Entry Number 117650). [rarediseases.org]

[…] spastic paraplegia 10.1016/j.ajhg.2012.11.001 Ondine-Hirschsprung syndrome (Haddad syndrome) - Further delineation in two cases and review of the literature 10.1007/BF02072522 Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: Epidemiological [paperbase.net]

[…] the fatty acid transport protein 4 gene in a patient initially described as affected by self-healing congenital verruciform hyperkeratosis 10.1002/ajmg.a.33648 Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological [paperbase.net]

TIS is a disorder where severe problems in how the chest, spine, and ribs are formed prevent normal breathing and lung development. [rarediseases.org]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Primers were designed with Primer Express v 2.0 (Applied Biosystems) amplifying the boundaries of two exons to prevent DNA amplification (Primer sequences are available upon request). [academic.oup.com]