FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development-Reference-Cited by-同舟云学术

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development

Published:2013-06 Issue:6 Volume:92 Page:990-995
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Unger Sheila,Górna Maria W.,Le Béchec Antony,Do Vale-Pereira Sonia,Bedeschi Maria Francesca,Geiberger Stefan,Grigelioniene Giedre,Horemuzova Eva,Lalatta Faustina,Lausch Ekkehart,Magnani Cinzia,Nampoothiri Sheela,Nishimura Gen,Petrella Duccio,Rojas-Ringeling Francisca,Utsunomiya Akari,Zabel Bernhard,Pradervand Sylvain,Harshman Keith,Campos-Xavier Belinda,Bonafé Luisa,Superti-Furga Giulio,Stevenson Brian,Superti-Furga Andrea

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son;Kenny;Am. J. Dis. Child.,1966

2. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs—mother and son; coupled with transitory hypocalcemic tetany;Caffey;Am. J. Roentgenol. Radium Ther. Nucl. Med.,1967

3. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one;Fanconi;J. Pediatr.,1986

4. The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction;Majewski;Eur. J. Pediatr.,1981

5. Dwarfism and congenital medullary stenosis (Kenny syndrome);Wilson;Birth Defects Orig. Artic. Ser.,1974

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