A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24368
Abstract: BNIP1 (BCL2 interacting protein 1) is a soluble N‐ethylmaleimide‐sensitive factor‐attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients 1 and 2 with disproportionate… read more here.
Keywords: bnip1; epiphyseal dysplasia; increase; spondylo epiphyseal ... See more keywords
Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia
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DOI: 10.1136/bcr-2017-221156
Abstract: Patients with mucopolysaccharidoses (MPS) have a plethora of multisystemic manifestations depending on the particular type, and atypical presentations are not uncommon. MPS type IVA (Morquio A syndrome) has predominant musculoskeletal system involvement and corneal clouding… read more here.
Keywords: epiphyseal dysplasia; diagnosis; type iva; iva morquio ... See more keywords