Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.
Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H.
Front Endocrinol (Lausanne). 2022 Feb 16;13:820001. doi: 10.3389/fendo.2022.820001. eCollection 2022.
PMID:35250876
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature.
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Lupski JR, Posey JE, Chen S, Gong C, Wu N.
J Genet Genomics. 2021 May 20;48(5):396-402. doi: 10.1016/j.jgg.2021.02.008. Epub 2021 Mar 22.
PMID:34006472
Short stature? Call the geneticist.
[No authors listed]
Arch Dis Child. 2023 Dec 14;109(1):43-45. doi: 10.1136/archdischild-2023-326703.
PMID:38097255
Monogenic causes of familial short stature.
Plachy L, Dusatkova P, Amaratunga SA, Neuman V, Sumnik Z, Lebl J, Pruhova S.
Front Endocrinol (Lausanne). 2024 Dec 19;15:1506323. doi: 10.3389/fendo.2024.1506323. eCollection 2024.
PMID:39749023
Orthopedic concerns of a child with short stature.
Liau ZQG, Wang Y, Lin HY, Cheong CK, Gupta S, Hui JHP.
Curr Opin Pediatr. 2022 Feb 1;34(1):82-91. doi: 10.1097/MOP.0000000000001081.
PMID:34840250
Approach to short stature.
Yadav S, Dabas A.
Indian J Pediatr. 2015 May;82(5):462-70. doi: 10.1007/s12098-014-1609-y. Epub 2014 Dec 4.