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X-linked intellectual deficiency syndrome with isolated growth hormone deficiency相关文献:
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC.
Am J Med Genet. 1996 Jul 12;64(1):35-41. doi: 10.1002/(SICI)1096-8628(19960712)64:1<35::AID-AJMG5>3.0.CO;2-Q.
PMID:8826446
Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.
Wirth EK, Roth S, Blechschmidt C, Hölter SM, Becker L, Racz I, Zimmer A, Klopstock T, Gailus-Durner V, Fuchs H, Wurst W, Naumann T, Bräuer A, de Angelis MH, Köhrle J, Grüters A, Schweizer U.
J Neurosci. 2009 Jul 29;29(30):9439-49. doi: 10.1523/JNEUROSCI.6055-08.2009.
PMID:19641107
X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family.
Raynaud M, Ronce N, Ayrault AD, Francannet C, Malpuech G, Moraine C.
Am J Med Genet. 1998 Mar 19;76(3):255-61.
PMID:9508246
Diverse SOX3 genetic variants and their associated phenotypic spectrum in human disease.
De Dominicis C, Birtolo MF, Lania AG, Trivellin G.
Endocr Rev. 2026 Apr 24:bnag008. doi: 10.1210/endrev/bnag008. Online ahead of print.
PMID:42029673
Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.
Cantú JM, Sánchez-Corona J, García-Cruz D, Fragoso R.
Hum Genet. 1980;56(2):231-4. doi: 10.1007/BF00295702.
PMID:7450781
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