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Lint: peroxisome-biogenesis-disorder

List Caps
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"Zellweger spectrum disorder (ZSD)"

Line 8:4 · In general, we don't start a list item with a capital letter. Exceptions are proper nouns.
Strong
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"rhizomelic chondrodysplasia punctata type 1 (RCDP) - a type of chondrodysplasia punctata"

Line 15:8 · Generally, don't use bold in text: 'rhizomelic chondrodysplasia punctata type 1<strong> </strong>(RCDP'

"rhizomelic chondrodysplasia punctata type 1 (RCDP) - a type of chondrodysplasia punctata"

Line 15:70 · Generally, don't use bold in text: 'RCDP)<strong> </strong>- a type of'

"The peroxisome biogenesis disorders are caused by mutations in the pexin (PEX) genes, which encode peroxins that allow for appropriate peroxisome biogenesis 2."

Line 21:4 · Generally, don't use bold in text: 'The<strong> </strong>peroxisome biogenesis disorders are caused by mutations in the'
Acronyms
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"rhizomelic chondrodysplasia punctata type 1 (RCDP) - a type of chondrodysplasia punctata"

Line 15:70 · 'RCDP' has no definition. Spell it out if it's unfamiliar to the audience.
Emphasis
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"The peroxisome biogenesis disorders are caused by mutations in the pexin (PEX) genes, which encode peroxins that allow for appropriate peroxisome biogenesis 2."

Line 21:88 · Italics should be used only in exceptional circumstances: '<em>pexin</em> (<em>PEX</em>'
There Is
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"There are two main groups 1:"

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Oxford Comma
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"Generally, the Zellweger spectrum disorders present in infancy or childhood and are characterised by crainofacial dysmorphism, neurological abnormalities, jaundice and developmental delay 1."

Line 18:144 · Use the Oxford comma in 'abnormalities, jaundice and developmental'.

"Rhizomelic chondrodysplasia punctata type 1 presents with shortening of the proximal humerus and femur, with punctate calcification of the epiphyseal cartilage 3. Dysplasia of the epi- and metaphysis, early-onset cataracts, seizures and intellectual disability are also common 3."

Line 19:228 · Use the Oxford comma in 'cataracts, seizures and intellectual'.