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1.
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Front Endocrinol (Lausanne)
; 13: 957969, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36303863
2.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
J Clin Endocrinol Metab
; 106(1): e152-e170, 2021 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33029631
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