FIGURE

Fig. 2

ID

ZDB-FIG-230915-2

Publication

Patterson et al., 2023 - Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

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Fig. 2

Affected individuals display CFAs and limb abnormalities.

(A to D) Affected individual at the age of 4 months (A), 14 months (B), and 28 years (C and D). Individual displays ptosis, high arched eyebrows, broad nasal root, thin lips, and posteriorly rotated ears. (E to H) Affected mother at 29 years of age (E and F) and her affected child (G and H) at 11 months of age. Individuals display down-slanting palpebral fissures, low-set ears, and thin upper lip. (I) Affected individual at 18 years of age. Individual displays high anterior hairline, ptosis, and down-slanting palpebral fissures. (J to L) Affected infant displays asymmetric crying facies, wide and flat nasal bridge, posteriorly rotated ears, as well as shoulder, hand, and elbow malformations. (M to P) Affected individuals display limb abnormalities including brachydactyly (M to O) and wrist contractures (P).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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