Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS

Bone

Volumn 71, Issue , 2015, Pages 53-57

  Turan, Serap ^a   Thiele, Susanne ^b   Tafaj, Olta ^c   Brix, Bettina ^b   Atay, Zeynep ^a   Abali, Saygin ^a   Haliloglu, Belma ^a   Bereket, Abdullah ^a   Bastepe, Murat ^c  

^a MARMARA UNIVERSITY   (Turkey)

^b UNIVERSITY OF LÜBECK   (Germany)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

GNAS; Hormone resistance; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism

Indexed keywords

CALCIUM; CLONIDINE; DNA; GONADOTROPIN; GROWTH HORMONE; LEVODOPA; PARATHYROID HORMONE; PHOSPHORUS; VITAMIN D; GNAS PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ACCELEROMETER; ACNE; ADOLESCENT; ALBRIGHT SYNDROME; AMPLICON; ARTICLE; BODY HEIGHT; CALCIUM BLOOD LEVEL; CASE REPORT; DNA DETERMINATION; DRUG MEGADOSE; FEMALE; GENE MUTATION; GNAS GENE; HAND MALFORMATION; HETEROZYGOSITY; HIRSUTISM; HORMONE BLOOD LEVEL; HORMONE RESISTANCE; HUMAN; HUMAN CELL; KARYOTYPE 46,XX; LOW BIRTH WEIGHT; MENARCHE; MOLECULAR DIAGNOSIS; PHOSPHATE BLOOD LEVEL; PSEUDOPSEUDOHYPOPARATHYROIDISM; RNA ANALYSIS; SHORT STATURE; ALLELE; BLOOD; FATHER; GENETICS; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ALLELES; CALCIUM; DNA MUTATIONAL ANALYSIS; FATHERS; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PARATHYROID HORMONE; PSEUDOPSEUDOHYPOPARATHYROIDISM; VITAMIN D;

EID: 84919884363     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2014.10.006     Document Type: Article

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