Chédiak-Higashi syndrome with novel gene mutation
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DOI: 10.1136/bcr-2016-216628
Abstract: Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5–6 years. We report here a case… read more here.
Keywords: syndrome novel; higashi syndrome; case; gene ... See more keywords
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-224958
Abstract: Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy… read more here.
Keywords: syndrome novel; presentation; laere syndrome; vialetto van ... See more keywords
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity
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DOI: 10.1177/08830738211004736
Abstract: Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay,… read more here.
Keywords: syndrome novel; kohlsch tter; novel rogd1; rogd1 variant ... See more keywords
Haddad syndrome novel association with BRAF mutation.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of neonatal-perinatal medicine"
DOI: 10.3233/npm-16170
Abstract: : This is a report of a 36 week male infant who suffered abdominal distension and difficulty opening bowels within first few days of life and showed a pattern of hypoventilation and apnea associated with… read more here.
Keywords: syndrome novel; novel association; braf; haddad syndrome ... See more keywords