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Quoted phrase not found in phrase index: "Frontal upsweep of hair"
Page 1
X-linked cutaneous amyloidosis: further clinical and pathological observations.
Partington MW, Prentice RS. Partington MW, et al. Am J Med Genet. 1989 Jan;32(1):115-9. doi: 10.1002/ajmg.1320320125. Am J Med Genet. 1989. PMID: 2705473
These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair with a frontal upsweep, dry skin, and mottled, muddy-brown pigmentation seen first on the inner thighs and spreading diffusely t …
These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair wi …
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. Le Fevre AK, et al. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399
Facial features include a broad forehead, downslanting palpebral fissures, a short nose with broad tip, relative or true macrocephaly, a frontal hair upsweep and prominent digit pads. Autistic traits and other behavioral problems are likely to be associated w …
Facial features include a broad forehead, downslanting palpebral fissures, a short nose with broad tip, relative or true macrocephaly, a …
A new case of Beckwith-Wiedemann syndrome with an 11p15 duplication of paternal origin [46,XY,-21,+der(21), t(11;21)(p15.2;q22.3)pat].
Krajewska-Walasek M, Gutkowska A, Mospinek-Krasnopolska M, Chrzanowska K. Krajewska-Walasek M, et al. Acta Genet Med Gemellol (Roma). 1996;45(1-2):245-50. doi: 10.1017/s0001566000001392. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872040
Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead with frontal upsweep of hair, wide central nose bridge, slightly beaked nose, chubby cheeks and severe mental retardati …
Apart from the characteristic BWS phenotype, the boy has other features which are almost exclusively observed in 11p trisomy (high forehead …