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2022 | 1 |
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Quoted phrase not found in phrase index: "Premature sagging cheeks"
Page 1
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients.
Mol Genet Genomic Med. 2022 Mar;10(3):e1825. doi: 10.1002/mgg3.1825. Epub 2022 Feb 14.
Mol Genet Genomic Med. 2022.
PMID: 35156329
Free PMC article.
RESULTS: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hairline, low-set ear, sparse eyebrows, and short neck) similar to his mother (mild intellectual disability, high hairline, reduced hair, ptosi …
RESULTS: A 4-year-old boy was diagnosed with severe developmental delay and with specific features (large head, full cheeks, high hai …
Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.
Lisker R, Hernández A, Martínez-Lavin M, Mutchinick O, Armas C, Reyes P, Robles-Gil J.
Lisker R, et al.
Am J Med Genet. 1979;3(4):389-95. doi: 10.1002/ajmg.1320030410.
Am J Med Genet. 1979.
PMID: 474638
Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; ma …
Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct fa …
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