Results 161 to 170 of about 10,063 (203)

Error in Table, Text, and Figure.

JAMA Pediatr
europepmc   +1 more source

Integrating vosoritide therapy with limb surgery in paediatric patients with achondroplasia: real-life experiences. [PDF]

Orphanet J Rare Dis
Allegri AEM, Bedeschi MF, Bocchi MB, Camurri V, Gonfiantini MV, Leoni C, Mariani M, Palmacci O, Porro M, Riganti S, Tedesco C, Rinaldi B, Scarano E, Schiavariello C, Selicorni A, Stagi S, Verdoni F, Zampino G, Maghnie M, Onesimo R.   +19 more
europepmc   +1 more source

Studies in California Paleopathology [PDF]

, 1976
Brunker, Lynda, Hoffman, J. Michael, Johnston, James O.   +2 more
core  

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature. [PDF]

Am J Hum Biol
Maruichi MD, Destailleur BT, Apelbaum GM, Longui CA, Kochi C.   +4 more
europepmc   +1 more source

Assessing the clinical relevance of MRI findings in adult achondroplasia patients with lumbar spinal stenosis. [PDF]

Brain Spine
Cai H, Omara C, Vleggeert-Lankamp CLA.
europepmc   +1 more source

Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.

J Clin Endocrinol Metab
Merchant N, Hoover-Fong J, Carroll RS.
europepmc   +1 more source

Change to Open Access.

JAMA Pediatr
europepmc   +1 more source

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Achondroplasia

Lancet, The, 2007
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many
Judith G Hall, William A Horton
exaly   +3 more sources