Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His

Clinical Genetics

Volumn 86, Issue 4, 2014, Pages 394-395

  Nikkel, Sarah M ^a,b   Ahmed, A ^a   Smith, A ^a   Marcadier, J ^a   Bulman, D E ^a,b   Boycott, K M ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; MAGNESIUM; PARATHYROID HORMONE; FAM111A PROTEIN, HUMAN; VIRUS RECEPTOR;

ADULT; ANTERIOR FONTANEL; AUTOSOMAL DOMINANT INHERITANCE; BIRTH WEIGHT; BODY HEIGHT; BONE DISEASE; BONE RADIOGRAPHY; CALCIUM BLOOD LEVEL; CASE REPORT; DECIDUOUS TOOTH; DENTAL CARIES; DISEASE TRANSMISSION; FAM111A GENE; FEMALE; FRONTAL BOSSING; GENE; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; HYPOTHYROIDISM; INTRAUTERINE GROWTH RETARDATION; KENNY CAFFEY SYNDROME; LETTER; MAGNESIUM BLOOD LEVEL; MINERAL SUPPLEMENTATION; MOTHER TO DAUGHTER TRANSMISSION; NEWBORN; OLIGODONTIA; PARATHYROID HORMONE BLOOD LEVEL; PERCEPTION DEAFNESS; POSTERIOR FONTANEL; SANGER SEQUENCING; SEIZURE; SUBSTITUTION THERAPY; CAFFEY DISEASE; DWARFISM; GENETICS; MUTATION; PATHOLOGY; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; DWARFISM; FEMALE; HUMANS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPOCALCEMIA; INFANT, NEWBORN; MUTATION; RECEPTORS, VIRUS;

EID: 84908260414     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12290     Document Type: Letter

References (8)

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