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    1. Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association. Journal of Medical Genetics · 1989 · 27 citations
    2. [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)]. PubMed · 1991 · 3 citations
    3. HASHIMOTO THYROIDITIS PRESENTING WITH SHORT STATURE, PUBERTAL DISTURBANCE, AND TELOGEN EFFLUVIUM IN AN 11-YEAR-OLD GIRL": A CASE REPORT Zenodo (CERN European Organization for Nuclear Research) · 2026
    4. HASHIMOTO THYROIDITIS PRESENTING WITH SHORT STATURE, PUBERTAL DISTURBANCE, AND TELOGEN EFFLUVIUM IN AN 11-YEAR-OLD GIRL": A CASE REPORT Zenodo (CERN European Organization for Nuclear Research) · 2026
    5. SUN-LB2 Undescended Testicle and Short Stature as Manifestation of Pituitary Stalk Interruption Syndrome a Report From Saudi Arabia Journal of the Endocrine Society · 2020
    6. Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome” European journal of pediatrics · 2002 · 5 citations
    7. For early diagnosis of young patients with Werner syndrome: Indication for genetic testing 2025
    8. SUN-287 A Case of Ectopic Neurohypophysis Journal of the Endocrine Society · 2020
    9. Aromatase inhibitor–induced hair loss in two adolescents Pediatric Dermatology · 2020 · 1 citations
    10. Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia. Archives of Disease in Childhood · 1996 · 13 citations
    11. A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 European journal of endocrinology · 2017 · 7 citations
    12. Diagnosis of childhood and adolescent growth hormone deficiency using transcriptomic data Frontiers in Endocrinology · 2023 · 1 citations
    13. Tricotiodistrofia. Reporte de un caso Revista del Centro Dermatológico Pascua · 2007
    14. Why were Sardinians the shortest Europeans? A journey through genes, infections, nutrition, and sex American Journal of Biological Anthropology · 2017 · 7 citations
    15. Severe metabolic disorders coexisting with Werner syndrome: a case report Endocrine journal · 2020 · 6 citations
    16. Zinc in hair and urine of paediatric patients Clinica Chimica Acta · 1986 · 16 citations
    17. Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature Pediatric neurology · 2008 · 23 citations
    18. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    19. Werner′s syndrome Indian Journal of Dermatology Venereology and Leprology · 2012 · 5 citations
    20. Isochromosome Mosaic Turner Syndrome: A Case Report Journal of the ASEAN Federation of Endocrine Societies · 2019 · 3 citations
    21. Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation 2019 · 1 citations
    22. Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report Journal of Dermatology & Cosmetology · 2024
    23. Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings Scholars Journal of Medical Case Reports · 2021
    24. PO-0071 Role Of Growth Hormone Therapy In Clinical, Laboratory, Radiological Improvement Of Children With Vitamin-d Dependent Rickets Type-2 Archives of Disease in Childhood · 2014
    25. Precocious Puberty Pediatrics in review · 2000 · 2 citations
    26. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations 2009 · 115 citations
    27. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    28. Extra-Intestinal Manifestation of Celiac Disease in Children Nutrients · 2018 · 54 citations
    29. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    30. Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene Journal of Molecular Neuroscience · 2022 · 9 citations