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Department of Clinical Haematology, Royal Manchester Children's Hospital, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Manchester, UK Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacolo
This article was published in the following journal.
Name: British journal of haematology
Chanarin Dorfman Syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem involvement. It is inherited as an autosomal recessive manner. It is characterized with congenital ich...
Taurodontism is a developmental anomaly of a tooth characterized by large pulp chamber and short roots. Patients with multiple taurodontic teeth are associated with the probability of a systemic syndr...
AMP-activated kinase (AMPK) is a key regulator of many cellular mechanisms required for adjustment to various stresses induced by the changing environment. In C. elegans dauer larvae AMPK-null mutants...
We present a unique and challenging case of a remnant foreign body that presented to us in a child disguised as a strongly suspected congenital branchial cleft anomaly. This case entailed oropharyngea...
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 y...
This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These diso...
The anomalous origin of right coronary artery (RCA) is a rare coronary anomaly. Recently, the detection of this anomaly has been more frequent as the use of cardiac multidetector computed ...
OBJECTIVES: Relating about the benefits proportionated by the physiotherapeutic treatment for the patients that have the Morquio's syndrome. METHODS: This study intends to analyse a patien...
Premenstrual syndrome (PMS) is related to the changes in the levels of hormones predominately progesterone, oestrogen and prolactin, during the luteal phase of the menstrual cycle. Both ph...
A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Artificial substitutes for body parts, and materials inserted into tissue for functional, cosmetic, or therapeutic purposes. Prostheses can be functional, as in the case of artificial arms and legs, or cosmetic, as in the case of an artificial eye. Implants, all surgically inserted or grafted into the body, tend to be used therapeutically. IMPLANTS, EXPERIMENTAL is available for those used experimentally.
Work consisting of an acknowledgment of an error, issued by a publisher, editor, or author. It customarily cites the source where the error occurred, giving complete bibliographic data for retrieval. In the case of books and monographs, author, title, imprint, paging, and other helpful references will be given; in the case of journal articles, the author, title, paging, and journal reference will be shown. An erratum notice is variously cited as Errata or Corrigenda.
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Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...