A case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat  PHOX2B  mutation | Zendy

Low K.J. | Zendy; Turnbull A.R. | Zendy; Smith K.R. | Zendy; Hilliard T.N. | Zendy; Hole L.J. | Zendy; Meecham Jones D.J. | Zendy; Williams M.M. | Zendy; Donaldson A. | Zendy

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A case of congenital central hypoventilation syndrome in a three‐generation family with non‐polyalanine repeat PHOX2B mutation

Author(s) -

Low K.J.,

Turnbull A.R.,

Smith K.R.,

Hilliard T.N.,

Hole L.J.,

Meecham Jones D.J.,

Williams M.M.,

Donaldson A.

Publication year - 2014

Publication title -

pediatric pulmonology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.866

H-Index - 106

eISSN - 1099-0496

pISSN - 8755-6863

DOI - 10.1002/ppul.23051

Subject(s) - congenital central hypoventilation syndrome , medicine , mutation , genetics , family history , miscarriage , hypoventilation , pediatrics , pregnancy , biology , gene , respiratory system

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non‐polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage. Pediatr Pulmonol. 2014; 49:E140–E143. © 2014 Wiley Periodicals, Inc.

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