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The European Journal of Medical Genetics is a monthly peer-reviewed medical journal covering medical genetics in human and experimental systems. It was established in 1958 as Annales de Génétique , obtaining its current name in 2005.
Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth. They have physical abnormalities including a large head (macrocephaly), sparse hair, prominent scalp veins, inward-folded eyelid (), widened anterior fontanelles, hollow cheeks (malar hypoplasia), general loss of fat tissues under the skin (lipoatrophy ...
Medical genetics Yunis–Varon syndrome (YVS), also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia , [ 1 ] [ 2 ] is an extremely rare [ 3 ] autosomal recessive [ 4 ] multisystem congenital disorder [ 5 ] which affects the skeletal system , ectodermal tissue, heart and respiratory system .
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.
Nablus mask-like facial syndrome (Nablus syndrome) is a rare (13 cases described by 2018) genetic condition. [1] It is a microdeletion syndrome triggered by a deletion at chromosome 8 q22.1 that causes a mask-like facial appearance in those affected. [2]
Ribose-5-phosphate isomerase deficiency (RPID) is a rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the pentose phosphate pathway.With only four known cases – all diagnosed between 1984 and 2019 – RPI deficiency is the second rarest disease, with Fields condition being the rarest, affecting two known individuals, Catherine and Kirstie Fields.
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics; American Journal of Medical Genetics Part C: Seminars in Medical Genetics; Until 1996 they were one journal under the name American Journal of Medical Genetics, when they split into Part A and Part B. Part C was established in 1999. [1] Part A of the journal focuses on ...